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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: 14-99850978-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=99850978&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 99850978,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001008707.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.193C>T",
"hgvs_p": "p.Arg65Trp",
"transcript": "NM_004434.3",
"protein_id": "NP_004425.2",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 815,
"cds_start": 193,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262233.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004434.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.193C>T",
"hgvs_p": "p.Arg65Trp",
"transcript": "ENST00000262233.11",
"protein_id": "ENSP00000262233.7",
"transcript_support_level": 1,
"aa_start": 65,
"aa_end": null,
"aa_length": 815,
"cds_start": 193,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004434.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262233.11"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.154C>T",
"hgvs_p": "p.Arg52Trp",
"transcript": "ENST00000554479.5",
"protein_id": "ENSP00000451346.1",
"transcript_support_level": 1,
"aa_start": 52,
"aa_end": null,
"aa_length": 378,
"cds_start": 154,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554479.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.367C>T",
"hgvs_p": "p.Arg123Trp",
"transcript": "ENST00000909081.1",
"protein_id": "ENSP00000579140.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 873,
"cds_start": 367,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909081.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.193C>T",
"hgvs_p": "p.Arg65Trp",
"transcript": "ENST00000940980.1",
"protein_id": "ENSP00000611039.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 846,
"cds_start": 193,
"cds_end": null,
"cds_length": 2541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940980.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.211C>T",
"hgvs_p": "p.Arg71Trp",
"transcript": "ENST00000649352.1",
"protein_id": "ENSP00000498100.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 840,
"cds_start": 211,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649352.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.193C>T",
"hgvs_p": "p.Arg65Trp",
"transcript": "NM_001008707.2",
"protein_id": "NP_001008707.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 834,
"cds_start": 193,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001008707.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.193C>T",
"hgvs_p": "p.Arg65Trp",
"transcript": "ENST00000334192.8",
"protein_id": "ENSP00000334314.4",
"transcript_support_level": 5,
"aa_start": 65,
"aa_end": null,
"aa_length": 834,
"cds_start": 193,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334192.8"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.193C>T",
"hgvs_p": "p.Arg65Trp",
"transcript": "ENST00000909078.1",
"protein_id": "ENSP00000579137.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 824,
"cds_start": 193,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909078.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.211C>T",
"hgvs_p": "p.Arg71Trp",
"transcript": "NM_001440375.1",
"protein_id": "NP_001427304.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 821,
"cds_start": 211,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440375.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.193C>T",
"hgvs_p": "p.Arg65Trp",
"transcript": "ENST00000940979.1",
"protein_id": "ENSP00000611038.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 814,
"cds_start": 193,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940979.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.100C>T",
"hgvs_p": "p.Arg34Trp",
"transcript": "ENST00000327921.13",
"protein_id": "ENSP00000327384.9",
"transcript_support_level": 2,
"aa_start": 34,
"aa_end": null,
"aa_length": 803,
"cds_start": 100,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327921.13"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.154C>T",
"hgvs_p": "p.Arg52Trp",
"transcript": "NM_001375411.1",
"protein_id": "NP_001362340.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 802,
"cds_start": 154,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375411.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.193C>T",
"hgvs_p": "p.Arg65Trp",
"transcript": "ENST00000909079.1",
"protein_id": "ENSP00000579138.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 797,
"cds_start": 193,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909079.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.211C>T",
"hgvs_p": "p.Arg71Trp",
"transcript": "NM_001440376.1",
"protein_id": "NP_001427305.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 777,
"cds_start": 211,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440376.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.193C>T",
"hgvs_p": "p.Arg65Trp",
"transcript": "NM_001375412.1",
"protein_id": "NP_001362341.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 771,
"cds_start": 193,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375412.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.193C>T",
"hgvs_p": "p.Arg65Trp",
"transcript": "ENST00000909082.1",
"protein_id": "ENSP00000579141.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 771,
"cds_start": 193,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909082.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.154C>T",
"hgvs_p": "p.Arg52Trp",
"transcript": "NM_001440377.1",
"protein_id": "NP_001427306.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 758,
"cds_start": 154,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440377.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.193C>T",
"hgvs_p": "p.Arg65Trp",
"transcript": "ENST00000912116.1",
"protein_id": "ENSP00000582175.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 666,
"cds_start": 193,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912116.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.100C>T",
"hgvs_p": "p.Arg34Trp",
"transcript": "ENST00000556714.5",
"protein_id": "ENSP00000452089.1",
"transcript_support_level": 5,
"aa_start": 34,
"aa_end": null,
"aa_length": 284,
"cds_start": 100,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556714.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.154C>T",
"hgvs_p": "p.Arg52Trp",
"transcript": "ENST00000555145.5",
"protein_id": "ENSP00000452160.1",
"transcript_support_level": 4,
"aa_start": 52,
"aa_end": null,
"aa_length": 155,
"cds_start": 154,
"cds_end": null,
"cds_length": 469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555145.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.211C>T",
"hgvs_p": "p.Arg71Trp",
"transcript": "ENST00000556947.1",
"protein_id": "ENSP00000451805.1",
"transcript_support_level": 5,
"aa_start": 71,
"aa_end": null,
"aa_length": 127,
"cds_start": 211,
"cds_end": null,
"cds_length": 385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556947.1"
},
{
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{
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"verdict": "Uncertain_significance",
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],
"clinvar_disease": "Inborn genetic diseases",
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"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}