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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: 2-160137634-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=160137634&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ITGB6",
"hgnc_id": 6161,
"hgvs_c": "c.1460G>T",
"hgvs_p": "p.Gly487Val",
"inheritance_mode": "AD,AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_000888.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.9679,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.28,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8938474655151367,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 788,
"aa_ref": "G",
"aa_start": 487,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4641,
"cdna_start": 1669,
"cds_end": null,
"cds_length": 2367,
"cds_start": 1460,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_000888.5",
"gene_hgnc_id": 6161,
"gene_symbol": "ITGB6",
"hgvs_c": "c.1460G>T",
"hgvs_p": "p.Gly487Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000283249.7",
"protein_coding": true,
"protein_id": "NP_000879.2",
"strand": false,
"transcript": "NM_000888.5",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 788,
"aa_ref": "G",
"aa_start": 487,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4641,
"cdna_start": 1669,
"cds_end": null,
"cds_length": 2367,
"cds_start": 1460,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000283249.7",
"gene_hgnc_id": 6161,
"gene_symbol": "ITGB6",
"hgvs_c": "c.1460G>T",
"hgvs_p": "p.Gly487Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000888.5",
"protein_coding": true,
"protein_id": "ENSP00000283249.2",
"strand": false,
"transcript": "ENST00000283249.7",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 788,
"aa_ref": "G",
"aa_start": 487,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2501,
"cdna_start": 1594,
"cds_end": null,
"cds_length": 2367,
"cds_start": 1460,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000409872.1",
"gene_hgnc_id": 6161,
"gene_symbol": "ITGB6",
"hgvs_c": "c.1460G>T",
"hgvs_p": "p.Gly487Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386367.1",
"strand": false,
"transcript": "ENST00000409872.1",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 817,
"aa_ref": "G",
"aa_start": 516,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3250,
"cdna_start": 1798,
"cds_end": null,
"cds_length": 2454,
"cds_start": 1547,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000958494.1",
"gene_hgnc_id": 6161,
"gene_symbol": "ITGB6",
"hgvs_c": "c.1547G>T",
"hgvs_p": "p.Gly516Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628553.1",
"strand": false,
"transcript": "ENST00000958494.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 809,
"aa_ref": "G",
"aa_start": 516,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4689,
"cdna_start": 1743,
"cds_end": null,
"cds_length": 2430,
"cds_start": 1547,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000958490.1",
"gene_hgnc_id": 6161,
"gene_symbol": "ITGB6",
"hgvs_c": "c.1547G>T",
"hgvs_p": "p.Gly516Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628549.1",
"strand": false,
"transcript": "ENST00000958490.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 788,
"aa_ref": "G",
"aa_start": 487,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4534,
"cdna_start": 1562,
"cds_end": null,
"cds_length": 2367,
"cds_start": 1460,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001282353.2",
"gene_hgnc_id": 6161,
"gene_symbol": "ITGB6",
"hgvs_c": "c.1460G>T",
"hgvs_p": "p.Gly487Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269282.1",
"strand": false,
"transcript": "NM_001282353.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 788,
"aa_ref": "G",
"aa_start": 487,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4804,
"cdna_start": 1825,
"cds_end": null,
"cds_length": 2367,
"cds_start": 1460,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000873501.1",
"gene_hgnc_id": 6161,
"gene_symbol": "ITGB6",
"hgvs_c": "c.1460G>T",
"hgvs_p": "p.Gly487Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543560.1",
"strand": false,
"transcript": "ENST00000873501.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 788,
"aa_ref": "G",
"aa_start": 487,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4744,
"cdna_start": 1775,
"cds_end": null,
"cds_length": 2367,
"cds_start": 1460,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000873502.1",
"gene_hgnc_id": 6161,
"gene_symbol": "ITGB6",
"hgvs_c": "c.1460G>T",
"hgvs_p": "p.Gly487Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543561.1",
"strand": false,
"transcript": "ENST00000873502.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 787,
"aa_ref": "G",
"aa_start": 486,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4663,
"cdna_start": 1698,
"cds_end": null,
"cds_length": 2364,
"cds_start": 1457,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000873503.1",
"gene_hgnc_id": 6161,
"gene_symbol": "ITGB6",
"hgvs_c": "c.1457G>T",
"hgvs_p": "p.Gly486Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543562.1",
"strand": false,
"transcript": "ENST00000873503.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 762,
"aa_ref": "G",
"aa_start": 487,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3945,
"cdna_start": 1657,
"cds_end": null,
"cds_length": 2289,
"cds_start": 1460,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000958493.1",
"gene_hgnc_id": 6161,
"gene_symbol": "ITGB6",
"hgvs_c": "c.1460G>T",
"hgvs_p": "p.Gly487Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628552.1",
"strand": false,
"transcript": "ENST00000958493.1",
"transcript_support_level": null
},
{
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"aa_length": 746,
"aa_ref": "G",
"aa_start": 445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4561,
"cdna_start": 1589,
"cds_end": null,
"cds_length": 2241,
"cds_start": 1334,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001282388.2",
"gene_hgnc_id": 6161,
"gene_symbol": "ITGB6",
"hgvs_c": "c.1334G>T",
"hgvs_p": "p.Gly445Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269317.1",
"strand": false,
"transcript": "NM_001282388.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 746,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2576,
"cdna_start": 1569,
"cds_end": null,
"cds_length": 2241,
"cds_start": 1334,
"consequences": [
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],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000428609.6",
"gene_hgnc_id": 6161,
"gene_symbol": "ITGB6",
"hgvs_c": "c.1334G>T",
"hgvs_p": "p.Gly445Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000408024.2",
"strand": false,
"transcript": "ENST00000428609.6",
"transcript_support_level": 2
},
{
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"aa_ref": "G",
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"biotype": "protein_coding",
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"cdna_start": 1657,
"cds_end": null,
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"consequences": [
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],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000958492.1",
"gene_hgnc_id": 6161,
"gene_symbol": "ITGB6",
"hgvs_c": "c.1460G>T",
"hgvs_p": "p.Gly487Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628551.1",
"strand": false,
"transcript": "ENST00000958492.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 715,
"aa_ref": "G",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4468,
"cdna_start": 1496,
"cds_end": null,
"cds_length": 2148,
"cds_start": 1241,
"consequences": [
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],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001282389.2",
"gene_hgnc_id": 6161,
"gene_symbol": "ITGB6",
"hgvs_c": "c.1241G>T",
"hgvs_p": "p.Gly414Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269318.1",
"strand": false,
"transcript": "NM_001282389.2",
"transcript_support_level": null
},
{
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"aa_length": 693,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 1384,
"cds_end": null,
"cds_length": 2082,
"cds_start": 1175,
"consequences": [
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],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001282354.2",
"gene_hgnc_id": 6161,
"gene_symbol": "ITGB6",
"hgvs_c": "c.1175G>T",
"hgvs_p": "p.Gly392Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269283.1",
"strand": false,
"transcript": "NM_001282354.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 693,
"aa_ref": "G",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4401,
"cdna_start": 1425,
"cds_end": null,
"cds_length": 2082,
"cds_start": 1175,
"consequences": [
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],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000620391.4",
"gene_hgnc_id": 6161,
"gene_symbol": "ITGB6",
"hgvs_c": "c.1175G>T",
"hgvs_p": "p.Gly392Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000481183.1",
"strand": false,
"transcript": "ENST00000620391.4",
"transcript_support_level": 3
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 692,
"aa_ref": "G",
"aa_start": 391,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4349,
"cdna_start": 1381,
"cds_end": null,
"cds_length": 2079,
"cds_start": 1172,
"consequences": [
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],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000958489.1",
"gene_hgnc_id": 6161,
"gene_symbol": "ITGB6",
"hgvs_c": "c.1172G>T",
"hgvs_p": "p.Gly391Val",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628548.1",
"strand": false,
"transcript": "ENST00000958489.1",
"transcript_support_level": null
},
{
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"aa_ref": "G",
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"biotype": "protein_coding",
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"cds_end": null,
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"consequences": [
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],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001282355.2",
"gene_hgnc_id": 6161,
"gene_symbol": "ITGB6",
"hgvs_c": "c.1460G>T",
"hgvs_p": "p.Gly487Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269284.1",
"strand": false,
"transcript": "NM_001282355.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 681,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2292,
"cdna_start": 1655,
"cds_end": null,
"cds_length": 2046,
"cds_start": 1460,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000409967.6",
"gene_hgnc_id": 6161,
"gene_symbol": "ITGB6",
"hgvs_c": "c.1460G>T",
"hgvs_p": "p.Gly487Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386828.2",
"strand": false,
"transcript": "ENST00000409967.6",
"transcript_support_level": 3
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 650,
"aa_ref": "G",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4388,
"cdna_start": 1416,
"cds_end": null,
"cds_length": 1953,
"cds_start": 1046,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001282390.2",
"gene_hgnc_id": 6161,
"gene_symbol": "ITGB6",
"hgvs_c": "c.1046G>T",
"hgvs_p": "p.Gly349Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269319.1",
"strand": false,
"transcript": "NM_001282390.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 541,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3881,
"cdna_start": null,
"cds_end": null,
"cds_length": 1626,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000958491.1",
"gene_hgnc_id": 6161,
"gene_symbol": "ITGB6",
"hgvs_c": "c.1018-11033G>T",
"hgvs_p": null,
"intron_rank": 7,
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