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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: 8-38414872-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=38414872&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 38414872,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000447712.7",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.1884T>C",
"hgvs_p": "p.Asn628Asn",
"transcript": "NM_023110.3",
"protein_id": "NP_075598.2",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 822,
"cds_start": 1884,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 2627,
"cdna_end": null,
"cdna_length": 5697,
"mane_select": "ENST00000447712.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.1884T>C",
"hgvs_p": "p.Asn628Asn",
"transcript": "ENST00000447712.7",
"protein_id": "ENSP00000400162.2",
"transcript_support_level": 1,
"aa_start": 628,
"aa_end": null,
"aa_length": 822,
"cds_start": 1884,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 2627,
"cdna_end": null,
"cdna_length": 5697,
"mane_select": "NM_023110.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.1872T>C",
"hgvs_p": "p.Asn624Asn",
"transcript": "ENST00000425967.8",
"protein_id": "ENSP00000393312.4",
"transcript_support_level": 1,
"aa_start": 624,
"aa_end": null,
"aa_length": 828,
"cds_start": 1872,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 1990,
"cdna_end": null,
"cdna_length": 3352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.1878T>C",
"hgvs_p": "p.Asn626Asn",
"transcript": "ENST00000397091.9",
"protein_id": "ENSP00000380280.5",
"transcript_support_level": 1,
"aa_start": 626,
"aa_end": null,
"aa_length": 820,
"cds_start": 1878,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 2627,
"cdna_end": null,
"cdna_length": 5702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.1878T>C",
"hgvs_p": "p.Asn626Asn",
"transcript": "ENST00000397108.8",
"protein_id": "ENSP00000380297.4",
"transcript_support_level": 1,
"aa_start": 626,
"aa_end": null,
"aa_length": 820,
"cds_start": 1878,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 2179,
"cdna_end": null,
"cdna_length": 2870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.1878T>C",
"hgvs_p": "p.Asn626Asn",
"transcript": "ENST00000397113.6",
"protein_id": "ENSP00000380302.2",
"transcript_support_level": 2,
"aa_start": 626,
"aa_end": null,
"aa_length": 820,
"cds_start": 1878,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 2195,
"cdna_end": null,
"cdna_length": 3680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.1854T>C",
"hgvs_p": "p.Asn618Asn",
"transcript": "ENST00000335922.9",
"protein_id": "ENSP00000337247.5",
"transcript_support_level": 1,
"aa_start": 618,
"aa_end": null,
"aa_length": 812,
"cds_start": 1854,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 2675,
"cdna_end": null,
"cdna_length": 4157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.1617T>C",
"hgvs_p": "p.Asn539Asn",
"transcript": "ENST00000356207.9",
"protein_id": "ENSP00000348537.5",
"transcript_support_level": 1,
"aa_start": 539,
"aa_end": null,
"aa_length": 733,
"cds_start": 1617,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 2341,
"cdna_end": null,
"cdna_length": 3824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.1617T>C",
"hgvs_p": "p.Asn539Asn",
"transcript": "ENST00000397103.5",
"protein_id": "ENSP00000380292.1",
"transcript_support_level": 5,
"aa_start": 539,
"aa_end": null,
"aa_length": 733,
"cds_start": 1617,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 1674,
"cdna_end": null,
"cdna_length": 2953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.1611T>C",
"hgvs_p": "p.Asn537Asn",
"transcript": "ENST00000326324.10",
"protein_id": "ENSP00000327229.6",
"transcript_support_level": 1,
"aa_start": 537,
"aa_end": null,
"aa_length": 731,
"cds_start": 1611,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 2335,
"cdna_end": null,
"cdna_length": 3816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "n.4163T>C",
"hgvs_p": null,
"transcript": "ENST00000526570.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 5528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.2064T>C",
"hgvs_p": "p.Asn688Asn",
"transcript": "ENST00000683765.1",
"protein_id": "ENSP00000507039.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 892,
"cds_start": 2064,
"cds_end": null,
"cds_length": 2679,
"cdna_start": 2773,
"cdna_end": null,
"cdna_length": 4135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.1977T>C",
"hgvs_p": "p.Asn659Asn",
"transcript": "NM_001174067.2",
"protein_id": "NP_001167538.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 853,
"cds_start": 1977,
"cds_end": null,
"cds_length": 2562,
"cdna_start": 2179,
"cdna_end": null,
"cdna_length": 5249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.1878T>C",
"hgvs_p": "p.Asn626Asn",
"transcript": "NM_001354367.2",
"protein_id": "NP_001341296.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 830,
"cds_start": 1878,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 2621,
"cdna_end": null,
"cdna_length": 4482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.1872T>C",
"hgvs_p": "p.Asn624Asn",
"transcript": "NM_001354369.2",
"protein_id": "NP_001341298.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 828,
"cds_start": 1872,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 2013,
"cdna_end": null,
"cdna_length": 3874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.1872T>C",
"hgvs_p": "p.Asn624Asn",
"transcript": "ENST00000341462.9",
"protein_id": "ENSP00000340636.7",
"transcript_support_level": 5,
"aa_start": 624,
"aa_end": null,
"aa_length": 828,
"cds_start": 1872,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 2581,
"cdna_end": null,
"cdna_length": 4442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.1884T>C",
"hgvs_p": "p.Asn628Asn",
"transcript": "ENST00000703405.1",
"protein_id": "ENSP00000515291.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 822,
"cds_start": 1884,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 2826,
"cdna_end": null,
"cdna_length": 5901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.1878T>C",
"hgvs_p": "p.Asn626Asn",
"transcript": "NM_001174063.2",
"protein_id": "NP_001167534.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 820,
"cds_start": 1878,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 2621,
"cdna_end": null,
"cdna_length": 5691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.1878T>C",
"hgvs_p": "p.Asn626Asn",
"transcript": "NM_001174065.2",
"protein_id": "NP_001167536.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 820,
"cds_start": 1878,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 2019,
"cdna_end": null,
"cdna_length": 5089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.1878T>C",
"hgvs_p": "p.Asn626Asn",
"transcript": "NM_015850.4",
"protein_id": "NP_056934.2",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 820,
"cds_start": 1878,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 2621,
"cdna_end": null,
"cdna_length": 5691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.1878T>C",
"hgvs_p": "p.Asn626Asn",
"transcript": "ENST00000532791.5",
"protein_id": "ENSP00000432972.1",
"transcript_support_level": 5,
"aa_start": 626,
"aa_end": null,
"aa_length": 820,
"cds_start": 1878,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 2608,
"cdna_end": null,
"cdna_length": 5590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.1872T>C",
"hgvs_p": "p.Asn624Asn",
"transcript": "NM_001410922.1",
"protein_id": "NP_001397851.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 818,
"cds_start": 1872,
"cds_end": null,
"cds_length": 2457,
"cdna_start": 2013,
"cdna_end": null,
"cdna_length": 5083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
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"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000447712.7",
"gene_symbol": "FGFR1",
"hgnc_id": 3688,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1884T>C",
"hgvs_p": "p.Asn628Asn"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}