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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: 19-52888193-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=52888193&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 52888193,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000682928.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF320",
"gene_hgnc_id": 13842,
"hgvs_c": "c.76G>A",
"hgvs_p": "p.Asp26Asn",
"transcript": "NM_001351774.2",
"protein_id": "NP_001338703.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 509,
"cds_start": 76,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 6331,
"mane_select": "ENST00000682928.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF320",
"gene_hgnc_id": 13842,
"hgvs_c": "c.76G>A",
"hgvs_p": "p.Asp26Asn",
"transcript": "ENST00000682928.1",
"protein_id": "ENSP00000506814.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 509,
"cds_start": 76,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 6331,
"mane_select": "NM_001351774.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF320",
"gene_hgnc_id": 13842,
"hgvs_c": "c.76G>A",
"hgvs_p": "p.Asp26Asn",
"transcript": "ENST00000391781.6",
"protein_id": "ENSP00000375660.2",
"transcript_support_level": 1,
"aa_start": 26,
"aa_end": null,
"aa_length": 509,
"cds_start": 76,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 196,
"cdna_end": null,
"cdna_length": 6074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF320",
"gene_hgnc_id": 13842,
"hgvs_c": "c.76G>A",
"hgvs_p": "p.Asp26Asn",
"transcript": "NM_001351773.2",
"protein_id": "NP_001338702.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 509,
"cds_start": 76,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 196,
"cdna_end": null,
"cdna_length": 6066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF320",
"gene_hgnc_id": 13842,
"hgvs_c": "c.76G>A",
"hgvs_p": "p.Asp26Asn",
"transcript": "NM_001351775.2",
"protein_id": "NP_001338704.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 509,
"cds_start": 76,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 532,
"cdna_end": null,
"cdna_length": 6402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF320",
"gene_hgnc_id": 13842,
"hgvs_c": "c.76G>A",
"hgvs_p": "p.Asp26Asn",
"transcript": "NM_001351776.2",
"protein_id": "NP_001338705.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 509,
"cds_start": 76,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 383,
"cdna_end": null,
"cdna_length": 6253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF320",
"gene_hgnc_id": 13842,
"hgvs_c": "c.76G>A",
"hgvs_p": "p.Asp26Asn",
"transcript": "NM_001387572.1",
"protein_id": "NP_001374501.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 509,
"cds_start": 76,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 653,
"cdna_end": null,
"cdna_length": 6523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF320",
"gene_hgnc_id": 13842,
"hgvs_c": "c.76G>A",
"hgvs_p": "p.Asp26Asn",
"transcript": "NM_001387573.1",
"protein_id": "NP_001374502.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 509,
"cds_start": 76,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 503,
"cdna_end": null,
"cdna_length": 6373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF320",
"gene_hgnc_id": 13842,
"hgvs_c": "c.76G>A",
"hgvs_p": "p.Asp26Asn",
"transcript": "NM_001387574.1",
"protein_id": "NP_001374503.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 509,
"cds_start": 76,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 6341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF320",
"gene_hgnc_id": 13842,
"hgvs_c": "c.76G>A",
"hgvs_p": "p.Asp26Asn",
"transcript": "NM_001387575.1",
"protein_id": "NP_001374504.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 509,
"cds_start": 76,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 441,
"cdna_end": null,
"cdna_length": 6311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF320",
"gene_hgnc_id": 13842,
"hgvs_c": "c.76G>A",
"hgvs_p": "p.Asp26Asn",
"transcript": "NM_001387576.1",
"protein_id": "NP_001374505.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 509,
"cds_start": 76,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 697,
"cdna_end": null,
"cdna_length": 6567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF320",
"gene_hgnc_id": 13842,
"hgvs_c": "c.76G>A",
"hgvs_p": "p.Asp26Asn",
"transcript": "NM_001387577.1",
"protein_id": "NP_001374506.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 509,
"cds_start": 76,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 425,
"cdna_end": null,
"cdna_length": 6295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF320",
"gene_hgnc_id": 13842,
"hgvs_c": "c.76G>A",
"hgvs_p": "p.Asp26Asn",
"transcript": "NM_207333.4",
"protein_id": "NP_997216.2",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 509,
"cds_start": 76,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 314,
"cdna_end": null,
"cdna_length": 6184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF320",
"gene_hgnc_id": 13842,
"hgvs_c": "c.76G>A",
"hgvs_p": "p.Asp26Asn",
"transcript": "ENST00000595635.5",
"protein_id": "ENSP00000473091.1",
"transcript_support_level": 2,
"aa_start": 26,
"aa_end": null,
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"cdna_start": 578,
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"feature": null
},
{
"aa_ref": "D",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF320",
"gene_hgnc_id": 13842,
"hgvs_c": "c.76G>A",
"hgvs_p": "p.Asp26Asn",
"transcript": "ENST00000597091.5",
"protein_id": "ENSP00000468995.1",
"transcript_support_level": 3,
"aa_start": 26,
"aa_end": null,
"aa_length": 154,
"cds_start": 76,
"cds_end": null,
"cds_length": 467,
"cdna_start": 267,
"cdna_end": null,
"cdna_length": 658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF320",
"gene_hgnc_id": 13842,
"hgvs_c": "c.76G>A",
"hgvs_p": "p.Asp26Asn",
"transcript": "ENST00000593618.5",
"protein_id": "ENSP00000472651.1",
"transcript_support_level": 4,
"aa_start": 26,
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"cdna_start": 304,
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"mane_select": null,
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"feature": null
},
{
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"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF320",
"gene_hgnc_id": 13842,
"hgvs_c": "c.76G>A",
"hgvs_p": "p.Asp26Asn",
"transcript": "NM_001351777.2",
"protein_id": "NP_001338706.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 117,
"cds_start": 76,
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"cds_length": 354,
"cdna_start": 314,
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"cdna_length": 5130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF320",
"gene_hgnc_id": 13842,
"hgvs_c": "c.76G>A",
"hgvs_p": "p.Asp26Asn",
"transcript": "NM_001387570.1",
"protein_id": "NP_001374499.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 117,
"cds_start": 76,
"cds_end": null,
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"cdna_start": 392,
"cdna_end": null,
"cdna_length": 5208,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF320",
"gene_hgnc_id": 13842,
"hgvs_c": "c.76G>A",
"hgvs_p": "p.Asp26Asn",
"transcript": "NM_001387571.1",
"protein_id": "NP_001374500.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
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},
{
"aa_ref": "D",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF320",
"gene_hgnc_id": 13842,
"hgvs_c": "c.76G>A",
"hgvs_p": "p.Asp26Asn",
"transcript": "ENST00000673631.1",
"protein_id": "ENSP00000500974.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
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"cds_start": 76,
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"cdna_start": 441,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF320",
"gene_hgnc_id": 13842,
"hgvs_c": "c.76G>A",
"hgvs_p": "p.Asp26Asn",
"transcript": "ENST00000594741.5",
"protein_id": "ENSP00000470403.1",
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"aa_start": 26,
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"cds_start": 76,
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"cdna_start": 408,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF320",
"gene_hgnc_id": 13842,
"hgvs_c": "c.76G>A",
"hgvs_p": "p.Asp26Asn",
"transcript": "ENST00000597265.5",
"protein_id": "ENSP00000471938.1",
"transcript_support_level": 3,
"aa_start": 26,
"aa_end": null,
"aa_length": 56,
"cds_start": 76,
"cds_end": null,
"cds_length": 172,
"cdna_start": 487,
"cdna_end": null,
"cdna_length": 583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF320",
"gene_hgnc_id": 13842,
"hgvs_c": "c.76G>A",
"hgvs_p": "p.Asp26Asn",
"transcript": "XM_047438300.1",
"protein_id": "XP_047294256.1",
"transcript_support_level": null,
"aa_start": 26,
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}