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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: 8-38414876-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=38414876&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FGFR1",
"hgnc_id": 3688,
"hgvs_c": "c.1973G>A",
"hgvs_p": "p.Arg658Lys",
"inheritance_mode": "AD,AR",
"pathogenic_score": 11,
"score": 11,
"transcript": "NM_001174067.2",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Strong",
"acmg_score": 11,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.987,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.33,
"chr": "8",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9837067723274231,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 822,
"aa_ref": "R",
"aa_start": 627,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5697,
"cdna_start": 2623,
"cds_end": null,
"cds_length": 2469,
"cds_start": 1880,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_023110.3",
"gene_hgnc_id": 3688,
"gene_symbol": "FGFR1",
"hgvs_c": "c.1880G>A",
"hgvs_p": "p.Arg627Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000447712.7",
"protein_coding": true,
"protein_id": "NP_075598.2",
"strand": false,
"transcript": "NM_023110.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 822,
"aa_ref": "R",
"aa_start": 627,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5697,
"cdna_start": 2623,
"cds_end": null,
"cds_length": 2469,
"cds_start": 1880,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000447712.7",
"gene_hgnc_id": 3688,
"gene_symbol": "FGFR1",
"hgvs_c": "c.1880G>A",
"hgvs_p": "p.Arg627Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_023110.3",
"protein_coding": true,
"protein_id": "ENSP00000400162.2",
"strand": false,
"transcript": "ENST00000447712.7",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 828,
"aa_ref": "R",
"aa_start": 623,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3352,
"cdna_start": 1986,
"cds_end": null,
"cds_length": 2487,
"cds_start": 1868,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000425967.8",
"gene_hgnc_id": 3688,
"gene_symbol": "FGFR1",
"hgvs_c": "c.1868G>A",
"hgvs_p": "p.Arg623Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000393312.4",
"strand": false,
"transcript": "ENST00000425967.8",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 820,
"aa_ref": "R",
"aa_start": 625,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5702,
"cdna_start": 2623,
"cds_end": null,
"cds_length": 2463,
"cds_start": 1874,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000397091.9",
"gene_hgnc_id": 3688,
"gene_symbol": "FGFR1",
"hgvs_c": "c.1874G>A",
"hgvs_p": "p.Arg625Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380280.5",
"strand": false,
"transcript": "ENST00000397091.9",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 820,
"aa_ref": "R",
"aa_start": 625,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2870,
"cdna_start": 2175,
"cds_end": null,
"cds_length": 2463,
"cds_start": 1874,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000397108.8",
"gene_hgnc_id": 3688,
"gene_symbol": "FGFR1",
"hgvs_c": "c.1874G>A",
"hgvs_p": "p.Arg625Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380297.4",
"strand": false,
"transcript": "ENST00000397108.8",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 820,
"aa_ref": "R",
"aa_start": 625,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3680,
"cdna_start": 2191,
"cds_end": null,
"cds_length": 2463,
"cds_start": 1874,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000397113.6",
"gene_hgnc_id": 3688,
"gene_symbol": "FGFR1",
"hgvs_c": "c.1874G>A",
"hgvs_p": "p.Arg625Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380302.2",
"strand": false,
"transcript": "ENST00000397113.6",
"transcript_support_level": 2
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 812,
"aa_ref": "R",
"aa_start": 617,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4157,
"cdna_start": 2671,
"cds_end": null,
"cds_length": 2439,
"cds_start": 1850,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000335922.9",
"gene_hgnc_id": 3688,
"gene_symbol": "FGFR1",
"hgvs_c": "c.1850G>A",
"hgvs_p": "p.Arg617Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000337247.5",
"strand": false,
"transcript": "ENST00000335922.9",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 733,
"aa_ref": "R",
"aa_start": 538,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3824,
"cdna_start": 2337,
"cds_end": null,
"cds_length": 2202,
"cds_start": 1613,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000356207.9",
"gene_hgnc_id": 3688,
"gene_symbol": "FGFR1",
"hgvs_c": "c.1613G>A",
"hgvs_p": "p.Arg538Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000348537.5",
"strand": false,
"transcript": "ENST00000356207.9",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 733,
"aa_ref": "R",
"aa_start": 538,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2953,
"cdna_start": 1670,
"cds_end": null,
"cds_length": 2202,
"cds_start": 1613,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000397103.5",
"gene_hgnc_id": 3688,
"gene_symbol": "FGFR1",
"hgvs_c": "c.1613G>A",
"hgvs_p": "p.Arg538Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380292.1",
"strand": false,
"transcript": "ENST00000397103.5",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 731,
"aa_ref": "R",
"aa_start": 536,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3816,
"cdna_start": 2331,
"cds_end": null,
"cds_length": 2196,
"cds_start": 1607,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000326324.10",
"gene_hgnc_id": 3688,
"gene_symbol": "FGFR1",
"hgvs_c": "c.1607G>A",
"hgvs_p": "p.Arg536Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000327229.6",
"strand": false,
"transcript": "ENST00000326324.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5528,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000526570.5",
"gene_hgnc_id": 3688,
"gene_symbol": "FGFR1",
"hgvs_c": "n.4159G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000526570.5",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 892,
"aa_ref": "R",
"aa_start": 687,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4135,
"cdna_start": 2769,
"cds_end": null,
"cds_length": 2679,
"cds_start": 2060,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000683765.1",
"gene_hgnc_id": 3688,
"gene_symbol": "FGFR1",
"hgvs_c": "c.2060G>A",
"hgvs_p": "p.Arg687Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507039.1",
"strand": false,
"transcript": "ENST00000683765.1",
"transcript_support_level": null
},
{
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"aa_length": 853,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5249,
"cdna_start": 2175,
"cds_end": null,
"cds_length": 2562,
"cds_start": 1973,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001174067.2",
"gene_hgnc_id": 3688,
"gene_symbol": "FGFR1",
"hgvs_c": "c.1973G>A",
"hgvs_p": "p.Arg658Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001167538.1",
"strand": false,
"transcript": "NM_001174067.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 830,
"aa_ref": "R",
"aa_start": 625,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4482,
"cdna_start": 2617,
"cds_end": null,
"cds_length": 2493,
"cds_start": 1874,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001354367.2",
"gene_hgnc_id": 3688,
"gene_symbol": "FGFR1",
"hgvs_c": "c.1874G>A",
"hgvs_p": "p.Arg625Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341296.1",
"strand": false,
"transcript": "NM_001354367.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
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"aa_length": 828,
"aa_ref": "R",
"aa_start": 623,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3874,
"cdna_start": 2009,
"cds_end": null,
"cds_length": 2487,
"cds_start": 1868,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001354369.2",
"gene_hgnc_id": 3688,
"gene_symbol": "FGFR1",
"hgvs_c": "c.1868G>A",
"hgvs_p": "p.Arg623Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341298.1",
"strand": false,
"transcript": "NM_001354369.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
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"aa_length": 828,
"aa_ref": "R",
"aa_start": 623,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4442,
"cdna_start": 2577,
"cds_end": null,
"cds_length": 2487,
"cds_start": 1868,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000341462.9",
"gene_hgnc_id": 3688,
"gene_symbol": "FGFR1",
"hgvs_c": "c.1868G>A",
"hgvs_p": "p.Arg623Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000340636.7",
"strand": false,
"transcript": "ENST00000341462.9",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 822,
"aa_ref": "R",
"aa_start": 627,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5901,
"cdna_start": 2822,
"cds_end": null,
"cds_length": 2469,
"cds_start": 1880,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000703405.1",
"gene_hgnc_id": 3688,
"gene_symbol": "FGFR1",
"hgvs_c": "c.1880G>A",
"hgvs_p": "p.Arg627Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515291.1",
"strand": false,
"transcript": "ENST00000703405.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3990,
"cdna_start": 2621,
"cds_end": null,
"cds_length": 2469,
"cds_start": 1880,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000857937.1",
"gene_hgnc_id": 3688,
"gene_symbol": "FGFR1",
"hgvs_c": "c.1880G>A",
"hgvs_p": "p.Arg627Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527996.1",
"strand": false,
"transcript": "ENST00000857937.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 820,
"aa_ref": "R",
"aa_start": 625,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5691,
"cdna_start": 2617,
"cds_end": null,
"cds_length": 2463,
"cds_start": 1874,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001174063.2",
"gene_hgnc_id": 3688,
"gene_symbol": "FGFR1",
"hgvs_c": "c.1874G>A",
"hgvs_p": "p.Arg625Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001167534.1",
"strand": false,
"transcript": "NM_001174063.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 820,
"aa_ref": "R",
"aa_start": 625,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5089,
"cdna_start": 2015,
"cds_end": null,
"cds_length": 2463,
"cds_start": 1874,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001174065.2",
"gene_hgnc_id": 3688,
"gene_symbol": "FGFR1",
"hgvs_c": "c.1874G>A",
"hgvs_p": "p.Arg625Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001167536.1",
"strand": false,
"transcript": "NM_001174065.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 820,
"aa_ref": "R",
"aa_start": 625,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5691,
"cdna_start": 2617,
"cds_end": null,
"cds_length": 2463,
"cds_start": 1874,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_015850.4",
"gene_hgnc_id": 3688,
"gene_symbol": "FGFR1",
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