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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: X-85255758-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=85255758&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 85255758,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001330574.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.579T>G",
"hgvs_p": "p.Asp193Glu",
"transcript": "NM_001330574.2",
"protein_id": "NP_001317503.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 807,
"cds_start": 579,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 1185,
"cdna_end": null,
"cdna_length": 4559,
"mane_select": "ENST00000674551.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330574.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.579T>G",
"hgvs_p": "p.Asp193Glu",
"transcript": "ENST00000674551.1",
"protein_id": "ENSP00000502839.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 807,
"cds_start": 579,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 1185,
"cdna_end": null,
"cdna_length": 4559,
"mane_select": "NM_001330574.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674551.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.579T>G",
"hgvs_p": "p.Asp193Glu",
"transcript": "ENST00000360700.4",
"protein_id": "ENSP00000353922.4",
"transcript_support_level": 1,
"aa_start": 193,
"aa_end": null,
"aa_length": 807,
"cds_start": 579,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 1465,
"cdna_end": null,
"cdna_length": 4844,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360700.4"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.579T>G",
"hgvs_p": "p.Asp193Glu",
"transcript": "ENST00000276123.7",
"protein_id": "ENSP00000276123.3",
"transcript_support_level": 1,
"aa_start": 193,
"aa_end": null,
"aa_length": 761,
"cds_start": 579,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 1087,
"cdna_end": null,
"cdna_length": 2887,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000276123.7"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.579T>G",
"hgvs_p": "p.Asp193Glu",
"transcript": "ENST00000373165.7",
"protein_id": "ENSP00000362260.3",
"transcript_support_level": 1,
"aa_start": 193,
"aa_end": null,
"aa_length": 761,
"cds_start": 579,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 885,
"cdna_end": null,
"cdna_length": 4124,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373165.7"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.579T>G",
"hgvs_p": "p.Asp193Glu",
"transcript": "NM_001375431.1",
"protein_id": "NP_001362360.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 807,
"cds_start": 579,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 806,
"cdna_end": null,
"cdna_length": 4180,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375431.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.579T>G",
"hgvs_p": "p.Asp193Glu",
"transcript": "NM_001375432.1",
"protein_id": "NP_001362361.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 807,
"cds_start": 579,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 1180,
"cdna_end": null,
"cdna_length": 4554,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375432.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.579T>G",
"hgvs_p": "p.Asp193Glu",
"transcript": "NM_001375433.1",
"protein_id": "NP_001362362.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 807,
"cds_start": 579,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 1543,
"cdna_end": null,
"cdna_length": 4917,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375433.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.579T>G",
"hgvs_p": "p.Asp193Glu",
"transcript": "ENST00000881748.1",
"protein_id": "ENSP00000551807.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 807,
"cds_start": 579,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 2602,
"cdna_end": null,
"cdna_length": 5978,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881748.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.579T>G",
"hgvs_p": "p.Asp193Glu",
"transcript": "ENST00000881753.1",
"protein_id": "ENSP00000551812.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 807,
"cds_start": 579,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 926,
"cdna_end": null,
"cdna_length": 4305,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881753.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.579T>G",
"hgvs_p": "p.Asp193Glu",
"transcript": "ENST00000881755.1",
"protein_id": "ENSP00000551814.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 807,
"cds_start": 579,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 1200,
"cdna_end": null,
"cdna_length": 4574,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881755.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.579T>G",
"hgvs_p": "p.Asp193Glu",
"transcript": "ENST00000881756.1",
"protein_id": "ENSP00000551815.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 807,
"cds_start": 579,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 1136,
"cdna_end": null,
"cdna_length": 4512,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881756.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.579T>G",
"hgvs_p": "p.Asp193Glu",
"transcript": "ENST00000881760.1",
"protein_id": "ENSP00000551819.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 807,
"cds_start": 579,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 944,
"cdna_end": null,
"cdna_length": 4323,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881760.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.579T>G",
"hgvs_p": "p.Asp193Glu",
"transcript": "ENST00000939582.1",
"protein_id": "ENSP00000609641.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 807,
"cds_start": 579,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 802,
"cdna_end": null,
"cdna_length": 4173,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939582.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.579T>G",
"hgvs_p": "p.Asp193Glu",
"transcript": "ENST00000939583.1",
"protein_id": "ENSP00000609642.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 807,
"cds_start": 579,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 1447,
"cdna_end": null,
"cdna_length": 4823,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939583.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.579T>G",
"hgvs_p": "p.Asp193Glu",
"transcript": "ENST00000939586.1",
"protein_id": "ENSP00000609645.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 807,
"cds_start": 579,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 889,
"cdna_end": null,
"cdna_length": 4262,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939586.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.579T>G",
"hgvs_p": "p.Asp193Glu",
"transcript": "ENST00000939588.1",
"protein_id": "ENSP00000609647.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 769,
"cds_start": 579,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 774,
"cdna_end": null,
"cdna_length": 4034,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939588.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.456T>G",
"hgvs_p": "p.Asp152Glu",
"transcript": "ENST00000939578.1",
"protein_id": "ENSP00000609637.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 766,
"cds_start": 456,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 1055,
"cdna_end": null,
"cdna_length": 4431,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939578.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.456T>G",
"hgvs_p": "p.Asp152Glu",
"transcript": "ENST00000939579.1",
"protein_id": "ENSP00000609638.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 766,
"cds_start": 456,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 803,
"cdna_end": null,
"cdna_length": 4177,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939579.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.456T>G",
"hgvs_p": "p.Asp152Glu",
"transcript": "ENST00000972099.1",
"protein_id": "ENSP00000642158.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 766,
"cds_start": 456,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 1057,
"cdna_end": null,
"cdna_length": 4430,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972099.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.579T>G",
"hgvs_p": "p.Asp193Glu",
"transcript": "NM_001375434.1",
"protein_id": "NP_001362363.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 761,
"cds_start": 579,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 4305,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375434.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.579T>G",
"hgvs_p": "p.Asp193Glu",
"transcript": "NM_001375435.1",
"protein_id": "NP_001362364.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 761,
"cds_start": 579,
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"phenotype_combined": "not specified|Inborn genetic diseases",
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}
],
"message": null
}