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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: 2-182720007-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=182720007&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 182720007,
"ref": "A",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_018981.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "c.205A>C",
"hgvs_p": "p.Asn69His",
"transcript": "NM_018981.4",
"protein_id": "NP_061854.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 793,
"cds_start": 205,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 635,
"cdna_end": null,
"cdna_length": 20144,
"mane_select": "ENST00000264065.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018981.4"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "c.205A>C",
"hgvs_p": "p.Asn69His",
"transcript": "ENST00000264065.12",
"protein_id": "ENSP00000264065.6",
"transcript_support_level": 1,
"aa_start": 69,
"aa_end": null,
"aa_length": 793,
"cds_start": 205,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 635,
"cdna_end": null,
"cdna_length": 20144,
"mane_select": "NM_018981.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264065.12"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "c.205A>C",
"hgvs_p": "p.Asn69His",
"transcript": "ENST00000616986.5",
"protein_id": "ENSP00000479930.1",
"transcript_support_level": 1,
"aa_start": 69,
"aa_end": null,
"aa_length": 747,
"cds_start": 205,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 635,
"cdna_end": null,
"cdna_length": 20006,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616986.5"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "c.205A>C",
"hgvs_p": "p.Asn69His",
"transcript": "ENST00000537515.5",
"protein_id": "ENSP00000441560.1",
"transcript_support_level": 1,
"aa_start": 69,
"aa_end": null,
"aa_length": 332,
"cds_start": 205,
"cds_end": null,
"cds_length": 999,
"cdna_start": 225,
"cdna_end": null,
"cdna_length": 1669,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537515.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "n.205A>C",
"hgvs_p": null,
"transcript": "ENST00000418559.6",
"protein_id": "ENSP00000389483.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 19607,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000418559.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "n.596A>C",
"hgvs_p": null,
"transcript": "ENST00000491074.6",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 20962,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000491074.6"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "c.205A>C",
"hgvs_p": "p.Asn69His",
"transcript": "ENST00000874159.1",
"protein_id": "ENSP00000544218.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 803,
"cds_start": 205,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 4196,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874159.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "c.205A>C",
"hgvs_p": "p.Asn69His",
"transcript": "ENST00000874155.1",
"protein_id": "ENSP00000544214.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 793,
"cds_start": 205,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 6925,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874155.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "c.205A>C",
"hgvs_p": "p.Asn69His",
"transcript": "ENST00000960778.1",
"protein_id": "ENSP00000630837.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 793,
"cds_start": 205,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 711,
"cdna_end": null,
"cdna_length": 5751,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960778.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "c.205A>C",
"hgvs_p": "p.Asn69His",
"transcript": "ENST00000960780.1",
"protein_id": "ENSP00000630839.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 793,
"cds_start": 205,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 525,
"cdna_end": null,
"cdna_length": 3019,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960780.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "c.205A>C",
"hgvs_p": "p.Asn69His",
"transcript": "ENST00000874156.1",
"protein_id": "ENSP00000544215.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 792,
"cds_start": 205,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 728,
"cdna_end": null,
"cdna_length": 6304,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874156.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "c.205A>C",
"hgvs_p": "p.Asn69His",
"transcript": "ENST00000680258.1",
"protein_id": "ENSP00000504932.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 773,
"cds_start": 205,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 637,
"cdna_end": null,
"cdna_length": 20086,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680258.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "c.205A>C",
"hgvs_p": "p.Asn69His",
"transcript": "ENST00000874158.1",
"protein_id": "ENSP00000544217.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 772,
"cds_start": 205,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 629,
"cdna_end": null,
"cdna_length": 4124,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874158.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "c.205A>C",
"hgvs_p": "p.Asn69His",
"transcript": "ENST00000960779.1",
"protein_id": "ENSP00000630838.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 772,
"cds_start": 205,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 631,
"cdna_end": null,
"cdna_length": 4118,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960779.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "c.130A>C",
"hgvs_p": "p.Asn44His",
"transcript": "ENST00000679884.1",
"protein_id": "ENSP00000506233.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 768,
"cds_start": 130,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 303,
"cdna_end": null,
"cdna_length": 19812,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679884.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "c.205A>C",
"hgvs_p": "p.Asn69His",
"transcript": "ENST00000874157.1",
"protein_id": "ENSP00000544216.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 758,
"cds_start": 205,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 4545,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874157.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "c.205A>C",
"hgvs_p": "p.Asn69His",
"transcript": "ENST00000874160.1",
"protein_id": "ENSP00000544219.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 753,
"cds_start": 205,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 590,
"cdna_end": null,
"cdna_length": 4028,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874160.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "c.205A>C",
"hgvs_p": "p.Asn69His",
"transcript": "ENST00000960781.1",
"protein_id": "ENSP00000630840.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 752,
"cds_start": 205,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 624,
"cdna_end": null,
"cdna_length": 2914,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960781.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "c.205A>C",
"hgvs_p": "p.Asn69His",
"transcript": "NM_001271581.3",
"protein_id": "NP_001258510.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 747,
"cds_start": 205,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 635,
"cdna_end": null,
"cdna_length": 20006,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271581.3"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "c.205A>C",
"hgvs_p": "p.Asn69His",
"transcript": "ENST00000874161.1",
"protein_id": "ENSP00000544220.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 746,
"cds_start": 205,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 586,
"cdna_end": null,
"cdna_length": 3078,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874161.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "c.205A>C",
"hgvs_p": "p.Asn69His",
"transcript": "ENST00000929252.1",
"protein_id": "ENSP00000599311.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 727,
"cds_start": 205,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 3996,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929252.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
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"intron_rank": null,
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{
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}