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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: 1-150817983-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=150817983&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 150817983,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001668.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARNT",
"gene_hgnc_id": 700,
"hgvs_c": "c.1442G>A",
"hgvs_p": "p.Arg481Lys",
"transcript": "NM_001668.4",
"protein_id": "NP_001659.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 789,
"cds_start": 1442,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000358595.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001668.4"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARNT",
"gene_hgnc_id": 700,
"hgvs_c": "c.1442G>A",
"hgvs_p": "p.Arg481Lys",
"transcript": "ENST00000358595.10",
"protein_id": "ENSP00000351407.5",
"transcript_support_level": 1,
"aa_start": 481,
"aa_end": null,
"aa_length": 789,
"cds_start": 1442,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001668.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358595.10"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARNT",
"gene_hgnc_id": 700,
"hgvs_c": "c.1442G>A",
"hgvs_p": "p.Arg481Lys",
"transcript": "ENST00000354396.6",
"protein_id": "ENSP00000346372.2",
"transcript_support_level": 1,
"aa_start": 481,
"aa_end": null,
"aa_length": 787,
"cds_start": 1442,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354396.6"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARNT",
"gene_hgnc_id": 700,
"hgvs_c": "c.1400G>A",
"hgvs_p": "p.Arg467Lys",
"transcript": "ENST00000515192.5",
"protein_id": "ENSP00000423851.1",
"transcript_support_level": 1,
"aa_start": 467,
"aa_end": null,
"aa_length": 775,
"cds_start": 1400,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515192.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARNT",
"gene_hgnc_id": 700,
"hgvs_c": "n.*39G>A",
"hgvs_p": null,
"transcript": "ENST00000471844.6",
"protein_id": "ENSP00000425899.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000471844.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARNT",
"gene_hgnc_id": 700,
"hgvs_c": "n.*39G>A",
"hgvs_p": null,
"transcript": "ENST00000471844.6",
"protein_id": "ENSP00000425899.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000471844.6"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARNT",
"gene_hgnc_id": 700,
"hgvs_c": "c.1490G>A",
"hgvs_p": "p.Arg497Lys",
"transcript": "ENST00000921690.1",
"protein_id": "ENSP00000591749.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 805,
"cds_start": 1490,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921690.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARNT",
"gene_hgnc_id": 700,
"hgvs_c": "c.1484G>A",
"hgvs_p": "p.Arg495Lys",
"transcript": "ENST00000904326.1",
"protein_id": "ENSP00000574385.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 803,
"cds_start": 1484,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904326.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARNT",
"gene_hgnc_id": 700,
"hgvs_c": "c.1466G>A",
"hgvs_p": "p.Arg489Lys",
"transcript": "ENST00000904334.1",
"protein_id": "ENSP00000574393.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 797,
"cds_start": 1466,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904334.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARNT",
"gene_hgnc_id": 700,
"hgvs_c": "c.1466G>A",
"hgvs_p": "p.Arg489Lys",
"transcript": "ENST00000948856.1",
"protein_id": "ENSP00000618915.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 796,
"cds_start": 1466,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948856.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARNT",
"gene_hgnc_id": 700,
"hgvs_c": "c.1466G>A",
"hgvs_p": "p.Arg489Lys",
"transcript": "ENST00000948859.1",
"protein_id": "ENSP00000618918.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 795,
"cds_start": 1466,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948859.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARNT",
"gene_hgnc_id": 700,
"hgvs_c": "c.1439G>A",
"hgvs_p": "p.Arg480Lys",
"transcript": "NM_001350225.2",
"protein_id": "NP_001337154.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 788,
"cds_start": 1439,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350225.2"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARNT",
"gene_hgnc_id": 700,
"hgvs_c": "c.1442G>A",
"hgvs_p": "p.Arg481Lys",
"transcript": "ENST00000904320.1",
"protein_id": "ENSP00000574379.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 788,
"cds_start": 1442,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904320.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARNT",
"gene_hgnc_id": 700,
"hgvs_c": "c.1442G>A",
"hgvs_p": "p.Arg481Lys",
"transcript": "ENST00000948858.1",
"protein_id": "ENSP00000618917.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 788,
"cds_start": 1442,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948858.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARNT",
"gene_hgnc_id": 700,
"hgvs_c": "c.1442G>A",
"hgvs_p": "p.Arg481Lys",
"transcript": "NM_001286036.2",
"protein_id": "NP_001272965.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 787,
"cds_start": 1442,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286036.2"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARNT",
"gene_hgnc_id": 700,
"hgvs_c": "c.1436G>A",
"hgvs_p": "p.Arg479Lys",
"transcript": "NM_001350226.2",
"protein_id": "NP_001337155.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 787,
"cds_start": 1436,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350226.2"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARNT",
"gene_hgnc_id": 700,
"hgvs_c": "c.1442G>A",
"hgvs_p": "p.Arg481Lys",
"transcript": "ENST00000904327.1",
"protein_id": "ENSP00000574386.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 786,
"cds_start": 1442,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904327.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARNT",
"gene_hgnc_id": 700,
"hgvs_c": "c.1427G>A",
"hgvs_p": "p.Arg476Lys",
"transcript": "ENST00000904332.1",
"protein_id": "ENSP00000574391.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 783,
"cds_start": 1427,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904332.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARNT",
"gene_hgnc_id": 700,
"hgvs_c": "c.1421G>A",
"hgvs_p": "p.Arg474Lys",
"transcript": "ENST00000921688.1",
"protein_id": "ENSP00000591747.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 782,
"cds_start": 1421,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921688.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARNT",
"gene_hgnc_id": 700,
"hgvs_c": "c.1427G>A",
"hgvs_p": "p.Arg476Lys",
"transcript": "ENST00000904331.1",
"protein_id": "ENSP00000574390.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 781,
"cds_start": 1427,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904331.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARNT",
"gene_hgnc_id": 700,
"hgvs_c": "c.1415G>A",
"hgvs_p": "p.Arg472Lys",
"transcript": "NM_001350224.2",
"protein_id": "NP_001337153.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 780,
"cds_start": 1415,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350224.2"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARNT",
"gene_hgnc_id": 700,
"hgvs_c": "c.1400G>A",
"hgvs_p": "p.Arg467Lys",
"transcript": "NM_001286035.2",
"protein_id": "NP_001272964.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 775,
"cds_start": 1400,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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{
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{
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{
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{
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{
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},
{
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"consequences": [
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],
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"biotype": "retained_intron",
"feature": "ENST00000510273.1"
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],
"gene_symbol": "ARNT",
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"dbsnp": "rs751427271",
"frequency_reference_population": 0.000033474298,
"hom_count_reference_population": 0,
"allele_count_reference_population": 54,
"gnomad_exomes_af": 0.0000355733,
"gnomad_genomes_af": 0.0000132093,
"gnomad_exomes_ac": 52,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13701054453849792,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.123,
"revel_prediction": "Benign",
"alphamissense_score": 0.0903,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.613,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001668.4",
"gene_symbol": "ARNT",
"hgnc_id": 700,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1442G>A",
"hgvs_p": "p.Arg481Lys"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}