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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: 12-14434367-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=14434367&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 14434367,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_181352.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP",
"gene_hgnc_id": 20092,
"hgvs_c": "c.1589A>G",
"hgvs_p": "p.Lys530Arg",
"transcript": "NM_018179.5",
"protein_id": "NP_060649.3",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 1270,
"cds_start": 1589,
"cds_end": null,
"cds_length": 3813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261168.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018179.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP",
"gene_hgnc_id": 20092,
"hgvs_c": "c.1589A>G",
"hgvs_p": "p.Lys530Arg",
"transcript": "ENST00000261168.9",
"protein_id": "ENSP00000261168.4",
"transcript_support_level": 5,
"aa_start": 530,
"aa_end": null,
"aa_length": 1270,
"cds_start": 1589,
"cds_end": null,
"cds_length": 3813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018179.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261168.9"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP",
"gene_hgnc_id": 20092,
"hgvs_c": "c.1613A>G",
"hgvs_p": "p.Lys538Arg",
"transcript": "ENST00000544627.5",
"protein_id": "ENSP00000440440.1",
"transcript_support_level": 1,
"aa_start": 538,
"aa_end": null,
"aa_length": 1278,
"cds_start": 1613,
"cds_end": null,
"cds_length": 3837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544627.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP",
"gene_hgnc_id": 20092,
"hgvs_c": "c.1589A>G",
"hgvs_p": "p.Lys530Arg",
"transcript": "ENST00000540793.5",
"protein_id": "ENSP00000444589.1",
"transcript_support_level": 1,
"aa_start": 530,
"aa_end": null,
"aa_length": 1270,
"cds_start": 1589,
"cds_end": null,
"cds_length": 3813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540793.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP",
"gene_hgnc_id": 20092,
"hgvs_c": "c.1586A>G",
"hgvs_p": "p.Lys529Arg",
"transcript": "ENST00000536444.5",
"protein_id": "ENSP00000445955.1",
"transcript_support_level": 1,
"aa_start": 529,
"aa_end": null,
"aa_length": 1269,
"cds_start": 1586,
"cds_end": null,
"cds_length": 3810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536444.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP",
"gene_hgnc_id": 20092,
"hgvs_c": "c.1586A>G",
"hgvs_p": "p.Lys529Arg",
"transcript": "ENST00000543189.5",
"protein_id": "ENSP00000443179.1",
"transcript_support_level": 1,
"aa_start": 529,
"aa_end": null,
"aa_length": 1105,
"cds_start": 1586,
"cds_end": null,
"cds_length": 3318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543189.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP",
"gene_hgnc_id": 20092,
"hgvs_c": "c.1613A>G",
"hgvs_p": "p.Lys538Arg",
"transcript": "NM_181352.2",
"protein_id": "NP_851997.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 1278,
"cds_start": 1613,
"cds_end": null,
"cds_length": 3837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181352.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP",
"gene_hgnc_id": 20092,
"hgvs_c": "c.1610A>G",
"hgvs_p": "p.Lys537Arg",
"transcript": "NM_001388179.1",
"protein_id": "NP_001375108.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 1277,
"cds_start": 1610,
"cds_end": null,
"cds_length": 3834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388179.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP",
"gene_hgnc_id": 20092,
"hgvs_c": "c.1589A>G",
"hgvs_p": "p.Lys530Arg",
"transcript": "ENST00000884191.1",
"protein_id": "ENSP00000554250.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 1276,
"cds_start": 1589,
"cds_end": null,
"cds_length": 3831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884191.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP",
"gene_hgnc_id": 20092,
"hgvs_c": "c.1589A>G",
"hgvs_p": "p.Lys530Arg",
"transcript": "ENST00000969302.1",
"protein_id": "ENSP00000639361.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 1276,
"cds_start": 1589,
"cds_end": null,
"cds_length": 3831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969302.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP",
"gene_hgnc_id": 20092,
"hgvs_c": "c.1589A>G",
"hgvs_p": "p.Lys530Arg",
"transcript": "NM_001388180.1",
"protein_id": "NP_001375109.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 1270,
"cds_start": 1589,
"cds_end": null,
"cds_length": 3813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388180.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP",
"gene_hgnc_id": 20092,
"hgvs_c": "c.1589A>G",
"hgvs_p": "p.Lys530Arg",
"transcript": "NM_001388181.1",
"protein_id": "NP_001375110.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 1270,
"cds_start": 1589,
"cds_end": null,
"cds_length": 3813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388181.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP",
"gene_hgnc_id": 20092,
"hgvs_c": "c.1589A>G",
"hgvs_p": "p.Lys530Arg",
"transcript": "NM_001388182.1",
"protein_id": "NP_001375111.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 1270,
"cds_start": 1589,
"cds_end": null,
"cds_length": 3813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388182.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP",
"gene_hgnc_id": 20092,
"hgvs_c": "c.1589A>G",
"hgvs_p": "p.Lys530Arg",
"transcript": "NM_001388183.1",
"protein_id": "NP_001375112.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 1270,
"cds_start": 1589,
"cds_end": null,
"cds_length": 3813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388183.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP",
"gene_hgnc_id": 20092,
"hgvs_c": "c.1589A>G",
"hgvs_p": "p.Lys530Arg",
"transcript": "ENST00000969304.1",
"protein_id": "ENSP00000639363.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 1270,
"cds_start": 1589,
"cds_end": null,
"cds_length": 3813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969304.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP",
"gene_hgnc_id": 20092,
"hgvs_c": "c.1586A>G",
"hgvs_p": "p.Lys529Arg",
"transcript": "NM_001286514.2",
"protein_id": "NP_001273443.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 1269,
"cds_start": 1586,
"cds_end": null,
"cds_length": 3810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286514.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP",
"gene_hgnc_id": 20092,
"hgvs_c": "c.1586A>G",
"hgvs_p": "p.Lys529Arg",
"transcript": "NM_001388184.1",
"protein_id": "NP_001375113.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 1269,
"cds_start": 1586,
"cds_end": null,
"cds_length": 3810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388184.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP",
"gene_hgnc_id": 20092,
"hgvs_c": "c.1586A>G",
"hgvs_p": "p.Lys529Arg",
"transcript": "ENST00000969301.1",
"protein_id": "ENSP00000639360.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 1269,
"cds_start": 1586,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969301.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP",
"gene_hgnc_id": 20092,
"hgvs_c": "c.1589A>G",
"hgvs_p": "p.Lys530Arg",
"transcript": "ENST00000936267.1",
"protein_id": "ENSP00000606326.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 1248,
"cds_start": 1589,
"cds_end": null,
"cds_length": 3747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936267.1"
},
{
"aa_ref": "K",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP",
"gene_hgnc_id": 20092,
"hgvs_c": "c.1586A>G",
"hgvs_p": "p.Lys529Arg",
"transcript": "ENST00000969303.1",
"protein_id": "ENSP00000639362.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 1223,
"cds_start": 1586,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969303.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP",
"gene_hgnc_id": 20092,
"hgvs_c": "c.1586A>G",
"hgvs_p": "p.Lys529Arg",
"transcript": "ENST00000884192.1",
"protein_id": "ENSP00000554251.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 1208,
"cds_start": 1586,
"cds_end": null,
"cds_length": 3627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884192.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP",
"gene_hgnc_id": 20092,
"hgvs_c": "c.1586A>G",
"hgvs_p": "p.Lys529Arg",
"transcript": "NM_001286515.2",
"protein_id": "NP_001273444.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 1105,
"cds_start": 1586,
"cds_end": null,
"cds_length": 3318,
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"acmg_by_gene": [
{
"score": -20,
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"BA1"
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"verdict": "Benign",
"transcript": "NM_181352.2",
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"inheritance_mode": "",
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}