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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: 12-109945336-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=109945336&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GIT2",
"hgnc_id": 4273,
"hgvs_c": "c.1655C>T",
"hgvs_p": "p.Ala552Val",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_057169.5",
"verdict": "Benign"
},
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "TCHP",
"hgnc_id": 28135,
"hgvs_c": "n.*276-7782G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "ENST00000544838.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 53227,
"alphamissense_prediction": null,
"alphamissense_score": 0.1291,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.19,
"chr": "12",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0015673637390136719,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 759,
"aa_ref": "A",
"aa_start": 552,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5598,
"cdna_start": 1799,
"cds_end": null,
"cds_length": 2280,
"cds_start": 1655,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_057169.5",
"gene_hgnc_id": 4273,
"gene_symbol": "GIT2",
"hgvs_c": "c.1655C>T",
"hgvs_p": "p.Ala552Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000355312.8",
"protein_coding": true,
"protein_id": "NP_476510.1",
"strand": false,
"transcript": "NM_057169.5",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 759,
"aa_ref": "A",
"aa_start": 552,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5598,
"cdna_start": 1799,
"cds_end": null,
"cds_length": 2280,
"cds_start": 1655,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000355312.8",
"gene_hgnc_id": 4273,
"gene_symbol": "GIT2",
"hgvs_c": "c.1655C>T",
"hgvs_p": "p.Ala552Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_057169.5",
"protein_coding": true,
"protein_id": "ENSP00000347464.3",
"strand": false,
"transcript": "ENST00000355312.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 681,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5291,
"cdna_start": null,
"cds_end": null,
"cds_length": 2046,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000457474.6",
"gene_hgnc_id": 4273,
"gene_symbol": "GIT2",
"hgvs_c": "c.1497+1920C>T",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000391813.2",
"strand": false,
"transcript": "ENST00000457474.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 758,
"aa_ref": "A",
"aa_start": 551,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5618,
"cdna_start": 1807,
"cds_end": null,
"cds_length": 2277,
"cds_start": 1652,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000876497.1",
"gene_hgnc_id": 4273,
"gene_symbol": "GIT2",
"hgvs_c": "c.1652C>T",
"hgvs_p": "p.Ala551Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546556.1",
"strand": false,
"transcript": "ENST00000876497.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 758,
"aa_ref": "A",
"aa_start": 551,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2807,
"cdna_start": 1797,
"cds_end": null,
"cds_length": 2277,
"cds_start": 1652,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000876510.1",
"gene_hgnc_id": 4273,
"gene_symbol": "GIT2",
"hgvs_c": "c.1652C>T",
"hgvs_p": "p.Ala551Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546569.1",
"strand": false,
"transcript": "ENST00000876510.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 744,
"aa_ref": "A",
"aa_start": 537,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5566,
"cdna_start": 1755,
"cds_end": null,
"cds_length": 2235,
"cds_start": 1610,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000876499.1",
"gene_hgnc_id": 4273,
"gene_symbol": "GIT2",
"hgvs_c": "c.1610C>T",
"hgvs_p": "p.Ala537Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546558.1",
"strand": false,
"transcript": "ENST00000876499.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 743,
"aa_ref": "A",
"aa_start": 536,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5575,
"cdna_start": 1764,
"cds_end": null,
"cds_length": 2232,
"cds_start": 1607,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000876494.1",
"gene_hgnc_id": 4273,
"gene_symbol": "GIT2",
"hgvs_c": "c.1607C>T",
"hgvs_p": "p.Ala536Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546553.1",
"strand": false,
"transcript": "ENST00000876494.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 709,
"aa_ref": "A",
"aa_start": 502,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5473,
"cdna_start": 1662,
"cds_end": null,
"cds_length": 2130,
"cds_start": 1505,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000876495.1",
"gene_hgnc_id": 4273,
"gene_symbol": "GIT2",
"hgvs_c": "c.1505C>T",
"hgvs_p": "p.Ala502Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546554.1",
"strand": false,
"transcript": "ENST00000876495.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 708,
"aa_ref": "A",
"aa_start": 501,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5445,
"cdna_start": 1646,
"cds_end": null,
"cds_length": 2127,
"cds_start": 1502,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001330153.2",
"gene_hgnc_id": 4273,
"gene_symbol": "GIT2",
"hgvs_c": "c.1502C>T",
"hgvs_p": "p.Ala501Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317082.1",
"strand": false,
"transcript": "NM_001330153.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 708,
"aa_ref": "A",
"aa_start": 501,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2127,
"cdna_start": 1502,
"cds_end": null,
"cds_length": 2127,
"cds_start": 1502,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000551209.5",
"gene_hgnc_id": 4273,
"gene_symbol": "GIT2",
"hgvs_c": "c.1502C>T",
"hgvs_p": "p.Ala501Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000448832.1",
"strand": false,
"transcript": "ENST00000551209.5",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 676,
"aa_ref": "A",
"aa_start": 469,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5349,
"cdna_start": 1550,
"cds_end": null,
"cds_length": 2031,
"cds_start": 1406,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000876501.1",
"gene_hgnc_id": 4273,
"gene_symbol": "GIT2",
"hgvs_c": "c.1406C>T",
"hgvs_p": "p.Ala469Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546560.1",
"strand": false,
"transcript": "ENST00000876501.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 675,
"aa_ref": "A",
"aa_start": 468,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5341,
"cdna_start": 1545,
"cds_end": null,
"cds_length": 2028,
"cds_start": 1403,
"consequences": [
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],
"exon_count": 19,
"exon_rank": 15,
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"feature": "ENST00000876506.1",
"gene_hgnc_id": 4273,
"gene_symbol": "GIT2",
"hgvs_c": "c.1403C>T",
"hgvs_p": "p.Ala468Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546565.1",
"strand": false,
"transcript": "ENST00000876506.1",
"transcript_support_level": null
},
{
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"aa_length": 661,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5258,
"cdna_start": 1460,
"cds_end": null,
"cds_length": 1986,
"cds_start": 1361,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000876508.1",
"gene_hgnc_id": 4273,
"gene_symbol": "GIT2",
"hgvs_c": "c.1361C>T",
"hgvs_p": "p.Ala454Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546567.1",
"strand": false,
"transcript": "ENST00000876508.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 626,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5222,
"cdna_start": 1411,
"cds_end": null,
"cds_length": 1881,
"cds_start": 1256,
"consequences": [
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],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000876496.1",
"gene_hgnc_id": 4273,
"gene_symbol": "GIT2",
"hgvs_c": "c.1256C>T",
"hgvs_p": "p.Ala419Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546555.1",
"strand": false,
"transcript": "ENST00000876496.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 625,
"aa_ref": "A",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5195,
"cdna_start": 1397,
"cds_end": null,
"cds_length": 1878,
"cds_start": 1253,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000876502.1",
"gene_hgnc_id": 4273,
"gene_symbol": "GIT2",
"hgvs_c": "c.1253C>T",
"hgvs_p": "p.Ala418Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546561.1",
"strand": false,
"transcript": "ENST00000876502.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 758,
"aa_ref": "A",
"aa_start": 551,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5595,
"cdna_start": 1796,
"cds_end": null,
"cds_length": 2277,
"cds_start": 1652,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_005253997.5",
"gene_hgnc_id": 4273,
"gene_symbol": "GIT2",
"hgvs_c": "c.1652C>T",
"hgvs_p": "p.Ala551Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005254054.1",
"strand": false,
"transcript": "XM_005253997.5",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 744,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 5553,
"cdna_start": 1754,
"cds_end": null,
"cds_length": 2235,
"cds_start": 1610,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_006719707.5",
"gene_hgnc_id": 4273,
"gene_symbol": "GIT2",
"hgvs_c": "c.1610C>T",
"hgvs_p": "p.Ala537Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006719770.1",
"strand": false,
"transcript": "XM_006719707.5",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 5550,
"cdna_start": 1751,
"cds_end": null,
"cds_length": 2232,
"cds_start": 1607,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047429922.1",
"gene_hgnc_id": 4273,
"gene_symbol": "GIT2",
"hgvs_c": "c.1607C>T",
"hgvs_p": "p.Ala536Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285878.1",
"strand": false,
"transcript": "XM_047429922.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 709,
"aa_ref": "A",
"aa_start": 502,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5448,
"cdna_start": 1649,
"cds_end": null,
"cds_length": 2130,
"cds_start": 1505,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_006719709.5",
"gene_hgnc_id": 4273,
"gene_symbol": "GIT2",
"hgvs_c": "c.1505C>T",
"hgvs_p": "p.Ala502Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006719772.1",
"strand": false,
"transcript": "XM_006719709.5",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 697,
"aa_ref": "A",
"aa_start": 490,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5578,
"cdna_start": 1779,
"cds_end": null,
"cds_length": 2094,
"cds_start": 1469,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047429926.1",
"gene_hgnc_id": 4273,
"gene_symbol": "GIT2",
"hgvs_c": "c.1469C>T",
"hgvs_p": "p.Ala490Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285882.1",
"strand": false,
"transcript": "XM_047429926.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 682,
"aa_ref": "A",
"aa_start": 475,
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