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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: 17-7224972-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=7224972&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 7224972,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000356839.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1843C>G",
"hgvs_p": "p.Arg615Gly",
"transcript": "NM_000018.4",
"protein_id": "NP_000009.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 655,
"cds_start": 1843,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 1890,
"cdna_end": null,
"cdna_length": 2184,
"mane_select": "ENST00000356839.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1843C>G",
"hgvs_p": "p.Arg615Gly",
"transcript": "ENST00000356839.10",
"protein_id": "ENSP00000349297.5",
"transcript_support_level": 1,
"aa_start": 615,
"aa_end": null,
"aa_length": 655,
"cds_start": 1843,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 1890,
"cdna_end": null,
"cdna_length": 2184,
"mane_select": "NM_000018.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1777C>G",
"hgvs_p": "p.Arg593Gly",
"transcript": "ENST00000350303.9",
"protein_id": "ENSP00000344152.5",
"transcript_support_level": 1,
"aa_start": 593,
"aa_end": null,
"aa_length": 633,
"cds_start": 1777,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 1899,
"cdna_end": null,
"cdna_length": 2191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1912C>G",
"hgvs_p": "p.Arg638Gly",
"transcript": "NM_001270447.2",
"protein_id": "NP_001257376.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 678,
"cds_start": 1912,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 1933,
"cdna_end": null,
"cdna_length": 2227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1912C>G",
"hgvs_p": "p.Arg638Gly",
"transcript": "ENST00000543245.6",
"protein_id": "ENSP00000438689.2",
"transcript_support_level": 2,
"aa_start": 638,
"aa_end": null,
"aa_length": 678,
"cds_start": 1912,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 1933,
"cdna_end": null,
"cdna_length": 2227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1777C>G",
"hgvs_p": "p.Arg593Gly",
"transcript": "NM_001033859.3",
"protein_id": "NP_001029031.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 633,
"cds_start": 1777,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 1824,
"cdna_end": null,
"cdna_length": 2118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1615C>G",
"hgvs_p": "p.Arg539Gly",
"transcript": "NM_001270448.2",
"protein_id": "NP_001257377.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 579,
"cds_start": 1615,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1965,
"cdna_end": null,
"cdna_length": 2259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.721C>G",
"hgvs_p": "p.Arg241Gly",
"transcript": "ENST00000542255.6",
"protein_id": "ENSP00000442082.2",
"transcript_support_level": 5,
"aa_start": 241,
"aa_end": null,
"aa_length": 281,
"cds_start": 721,
"cds_end": null,
"cds_length": 846,
"cdna_start": 722,
"cdna_end": null,
"cdna_length": 1016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.577C>G",
"hgvs_p": "p.Arg193Gly",
"transcript": "ENST00000579546.1",
"protein_id": "ENSP00000464254.1",
"transcript_support_level": 5,
"aa_start": 193,
"aa_end": null,
"aa_length": 192,
"cds_start": 577,
"cds_end": null,
"cds_length": 581,
"cdna_start": 578,
"cdna_end": null,
"cdna_length": 582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1864C>G",
"hgvs_p": "p.Arg622Gly",
"transcript": "XM_006721516.4",
"protein_id": "XP_006721579.2",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 662,
"cds_start": 1864,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 1911,
"cdna_end": null,
"cdna_length": 2205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1762C>G",
"hgvs_p": "p.Arg588Gly",
"transcript": "XM_011523829.3",
"protein_id": "XP_011522131.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 628,
"cds_start": 1762,
"cds_end": null,
"cds_length": 1887,
"cdna_start": 1809,
"cdna_end": null,
"cdna_length": 2103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1741C>G",
"hgvs_p": "p.Arg581Gly",
"transcript": "XM_011523830.3",
"protein_id": "XP_011522132.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 621,
"cds_start": 1741,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 1788,
"cdna_end": null,
"cdna_length": 2082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "n.*1798C>G",
"hgvs_p": null,
"transcript": "ENST00000322910.9",
"protein_id": "ENSP00000325395.5",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "n.268C>G",
"hgvs_p": null,
"transcript": "ENST00000578033.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "n.424C>G",
"hgvs_p": null,
"transcript": "ENST00000578319.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "n.1468C>G",
"hgvs_p": null,
"transcript": "ENST00000578711.1",
"protein_id": null,
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "n.415C>G",
"hgvs_p": null,
"transcript": "ENST00000578809.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "n.959C>G",
"hgvs_p": null,
"transcript": "ENST00000579425.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "n.*71C>G",
"hgvs_p": null,
"transcript": "ENST00000583848.5",
"protein_id": "ENSP00000466487.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "n.614C>G",
"hgvs_p": null,
"transcript": "ENST00000583850.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "n.*161C>G",
"hgvs_p": null,
"transcript": "ENST00000583858.5",
"protein_id": "ENSP00000462611.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "n.*1798C>G",
"hgvs_p": null,
"transcript": "ENST00000322910.9",
"protein_id": "ENSP00000325395.5",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "n.*71C>G",
"hgvs_p": null,
"transcript": "ENST00000583848.5",
"protein_id": "ENSP00000466487.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 503,
"mane_select": null,
"mane_plus": null,
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],
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"hom_count_reference_population": 0,
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"PM2",
"BP4"
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"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "AR",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}