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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 17-7224243-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=7224243&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 7224243,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001270447.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1532G>A",
"hgvs_p": "p.Arg511Gln",
"transcript": "NM_000018.4",
"protein_id": "NP_000009.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 655,
"cds_start": 1532,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000356839.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000018.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1532G>A",
"hgvs_p": "p.Arg511Gln",
"transcript": "ENST00000356839.10",
"protein_id": "ENSP00000349297.5",
"transcript_support_level": 1,
"aa_start": 511,
"aa_end": null,
"aa_length": 655,
"cds_start": 1532,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000018.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356839.10"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1466G>A",
"hgvs_p": "p.Arg489Gln",
"transcript": "ENST00000350303.9",
"protein_id": "ENSP00000344152.5",
"transcript_support_level": 1,
"aa_start": 489,
"aa_end": null,
"aa_length": 633,
"cds_start": 1466,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000350303.9"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1601G>A",
"hgvs_p": "p.Arg534Gln",
"transcript": "NM_001270447.2",
"protein_id": "NP_001257376.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 678,
"cds_start": 1601,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270447.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1601G>A",
"hgvs_p": "p.Arg534Gln",
"transcript": "ENST00000543245.6",
"protein_id": "ENSP00000438689.2",
"transcript_support_level": 2,
"aa_start": 534,
"aa_end": null,
"aa_length": 678,
"cds_start": 1601,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543245.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1574G>A",
"hgvs_p": "p.Arg525Gln",
"transcript": "ENST00000945302.1",
"protein_id": "ENSP00000615361.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 669,
"cds_start": 1574,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945302.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1562G>A",
"hgvs_p": "p.Arg521Gln",
"transcript": "ENST00000883761.1",
"protein_id": "ENSP00000553820.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 665,
"cds_start": 1562,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883761.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1556G>A",
"hgvs_p": "p.Arg519Gln",
"transcript": "ENST00000945308.1",
"protein_id": "ENSP00000615367.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 663,
"cds_start": 1556,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945308.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1550G>A",
"hgvs_p": "p.Arg517Gln",
"transcript": "ENST00000883770.1",
"protein_id": "ENSP00000553829.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 661,
"cds_start": 1550,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883770.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1532G>A",
"hgvs_p": "p.Arg511Gln",
"transcript": "ENST00000916066.1",
"protein_id": "ENSP00000586125.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 655,
"cds_start": 1532,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916066.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1532G>A",
"hgvs_p": "p.Arg511Gln",
"transcript": "ENST00000916068.1",
"protein_id": "ENSP00000586127.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 655,
"cds_start": 1532,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916068.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1529G>A",
"hgvs_p": "p.Arg510Gln",
"transcript": "ENST00000883764.1",
"protein_id": "ENSP00000553823.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 654,
"cds_start": 1529,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883764.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1532G>A",
"hgvs_p": "p.Arg511Gln",
"transcript": "ENST00000883757.1",
"protein_id": "ENSP00000553816.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 652,
"cds_start": 1532,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883757.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1523G>A",
"hgvs_p": "p.Arg508Gln",
"transcript": "ENST00000945291.1",
"protein_id": "ENSP00000615350.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 652,
"cds_start": 1523,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945291.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1532G>A",
"hgvs_p": "p.Arg511Gln",
"transcript": "ENST00000945298.1",
"protein_id": "ENSP00000615357.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 651,
"cds_start": 1532,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945298.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1517G>A",
"hgvs_p": "p.Arg506Gln",
"transcript": "ENST00000945297.1",
"protein_id": "ENSP00000615356.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 650,
"cds_start": 1517,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945297.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1508G>A",
"hgvs_p": "p.Arg503Gln",
"transcript": "ENST00000945292.1",
"protein_id": "ENSP00000615351.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 647,
"cds_start": 1508,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945292.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1505G>A",
"hgvs_p": "p.Arg502Gln",
"transcript": "ENST00000945303.1",
"protein_id": "ENSP00000615362.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 646,
"cds_start": 1505,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945303.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1499G>A",
"hgvs_p": "p.Arg500Gln",
"transcript": "ENST00000945299.1",
"protein_id": "ENSP00000615358.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 644,
"cds_start": 1499,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945299.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1493G>A",
"hgvs_p": "p.Arg498Gln",
"transcript": "ENST00000945300.1",
"protein_id": "ENSP00000615359.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 642,
"cds_start": 1493,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945300.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1484G>A",
"hgvs_p": "p.Arg495Gln",
"transcript": "ENST00000945293.1",
"protein_id": "ENSP00000615352.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 639,
"cds_start": 1484,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945293.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
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{
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{
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"protein_coding": false,
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"exon_count": 5,
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"biotype": "pseudogene",
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{
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],
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"exon_count": 10,
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"transcript": "ENST00000583858.5",
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{
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"intron_variant"
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"exon_count": 18,
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"gene_symbol": "ACADVL",
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{
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"consequences": [
"upstream_gene_variant"
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"exon_count": 2,
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"gene_symbol": "ACADVL",
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{
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"gene_symbol": "ACADVL",
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"transcript": "ENST00000583848.5",
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"biotype": "nonsense_mediated_decay",
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],
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"dbsnp": "rs200771970",
"frequency_reference_population": 0.000003098569,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000205272,
"gnomad_genomes_af": 0.0000131428,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.35605013370513916,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.9459999799728394,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.651,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.1419,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.11,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.74,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.55,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": 0.999994142063593,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 22,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM1,PM2,PM5,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 22,
"benign_score": 0,
"pathogenic_score": 22,
"criteria": [
"PS3",
"PM1",
"PM2",
"PM5",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_001270447.2",
"gene_symbol": "ACADVL",
"hgnc_id": 92,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1601G>A",
"hgvs_p": "p.Arg534Gln"
}
],
"clinvar_disease": "Very long chain acyl-CoA dehydrogenase deficiency,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:2 LP:4 US:1",
"phenotype_combined": "Very long chain acyl-CoA dehydrogenase deficiency|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}