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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: 2-200818803-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=200818803&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 200818803,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001207068.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.868C>T",
"hgvs_p": "p.Pro290Ser",
"transcript": "NM_001207067.2",
"protein_id": "NP_001193996.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 419,
"cds_start": 868,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000409600.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001207067.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.868C>T",
"hgvs_p": "p.Pro290Ser",
"transcript": "ENST00000409600.6",
"protein_id": "ENSP00000386474.1",
"transcript_support_level": 1,
"aa_start": 290,
"aa_end": null,
"aa_length": 419,
"cds_start": 868,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001207067.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409600.6"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.964C>T",
"hgvs_p": "p.Pro322Ser",
"transcript": "NM_001207068.3",
"protein_id": "NP_001193997.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 451,
"cds_start": 964,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001207068.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.964C>T",
"hgvs_p": "p.Pro322Ser",
"transcript": "ENST00000452790.6",
"protein_id": "ENSP00000394316.2",
"transcript_support_level": 2,
"aa_start": 322,
"aa_end": null,
"aa_length": 451,
"cds_start": 964,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452790.6"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.880C>T",
"hgvs_p": "p.Pro294Ser",
"transcript": "NM_001207069.2",
"protein_id": "NP_001193998.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 423,
"cds_start": 880,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001207069.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.880C>T",
"hgvs_p": "p.Pro294Ser",
"transcript": "ENST00000409226.5",
"protein_id": "ENSP00000386837.1",
"transcript_support_level": 2,
"aa_start": 294,
"aa_end": null,
"aa_length": 423,
"cds_start": 880,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409226.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.868C>T",
"hgvs_p": "p.Pro290Ser",
"transcript": "ENST00000861042.1",
"protein_id": "ENSP00000531101.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 423,
"cds_start": 868,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861042.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.868C>T",
"hgvs_p": "p.Pro290Ser",
"transcript": "NM_001321688.2",
"protein_id": "NP_001308617.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 419,
"cds_start": 868,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321688.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.868C>T",
"hgvs_p": "p.Pro290Ser",
"transcript": "NM_001321690.1",
"protein_id": "NP_001308619.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 419,
"cds_start": 868,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321690.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.868C>T",
"hgvs_p": "p.Pro290Ser",
"transcript": "ENST00000861037.1",
"protein_id": "ENSP00000531096.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 419,
"cds_start": 868,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861037.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.868C>T",
"hgvs_p": "p.Pro290Ser",
"transcript": "ENST00000861044.1",
"protein_id": "ENSP00000531103.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 419,
"cds_start": 868,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861044.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.868C>T",
"hgvs_p": "p.Pro290Ser",
"transcript": "ENST00000861045.1",
"protein_id": "ENSP00000531104.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 419,
"cds_start": 868,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861045.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.868C>T",
"hgvs_p": "p.Pro290Ser",
"transcript": "ENST00000861046.1",
"protein_id": "ENSP00000531105.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 419,
"cds_start": 868,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861046.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.868C>T",
"hgvs_p": "p.Pro290Ser",
"transcript": "ENST00000946639.1",
"protein_id": "ENSP00000616698.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 419,
"cds_start": 868,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946639.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.865C>T",
"hgvs_p": "p.Pro289Ser",
"transcript": "ENST00000937471.1",
"protein_id": "ENSP00000607530.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 418,
"cds_start": 865,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937471.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.865C>T",
"hgvs_p": "p.Pro289Ser",
"transcript": "ENST00000946635.1",
"protein_id": "ENSP00000616694.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 418,
"cds_start": 865,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946635.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.868C>T",
"hgvs_p": "p.Pro290Ser",
"transcript": "ENST00000861043.1",
"protein_id": "ENSP00000531102.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 417,
"cds_start": 868,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861043.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.862C>T",
"hgvs_p": "p.Pro288Ser",
"transcript": "ENST00000937470.1",
"protein_id": "ENSP00000607529.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 417,
"cds_start": 862,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937470.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.868C>T",
"hgvs_p": "p.Pro290Ser",
"transcript": "ENST00000937476.1",
"protein_id": "ENSP00000607535.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 417,
"cds_start": 868,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937476.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.859C>T",
"hgvs_p": "p.Pro287Ser",
"transcript": "ENST00000861039.1",
"protein_id": "ENSP00000531098.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 416,
"cds_start": 859,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861039.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.859C>T",
"hgvs_p": "p.Pro287Ser",
"transcript": "ENST00000946638.1",
"protein_id": "ENSP00000616697.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 416,
"cds_start": 859,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946638.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.856C>T",
"hgvs_p": "p.Pro286Ser",
"transcript": "ENST00000937472.1",
"protein_id": "ENSP00000607531.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 415,
"cds_start": 856,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
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"phenotype_combined": "not specified",
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}
],
"message": null
}