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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: 8-243756-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=243756&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 243756,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000522866.5",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF596",
"gene_hgnc_id": 27268,
"hgvs_c": "c.174A>T",
"hgvs_p": "p.Gln58His",
"transcript": "NM_001042416.3",
"protein_id": "NP_001035881.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 504,
"cds_start": 174,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 485,
"cdna_end": null,
"cdna_length": 2803,
"mane_select": "ENST00000398612.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF596",
"gene_hgnc_id": 27268,
"hgvs_c": "c.174A>T",
"hgvs_p": "p.Gln58His",
"transcript": "ENST00000398612.3",
"protein_id": "ENSP00000381613.1",
"transcript_support_level": 5,
"aa_start": 58,
"aa_end": null,
"aa_length": 504,
"cds_start": 174,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 485,
"cdna_end": null,
"cdna_length": 2803,
"mane_select": "NM_001042416.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF596",
"gene_hgnc_id": 27268,
"hgvs_c": "c.174A>T",
"hgvs_p": "p.Gln58His",
"transcript": "ENST00000308811.8",
"protein_id": "ENSP00000310033.4",
"transcript_support_level": 1,
"aa_start": 58,
"aa_end": null,
"aa_length": 504,
"cds_start": 174,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 462,
"cdna_end": null,
"cdna_length": 2783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF596",
"gene_hgnc_id": 27268,
"hgvs_c": "c.174A>T",
"hgvs_p": "p.Gln58His",
"transcript": "ENST00000522866.5",
"protein_id": "ENSP00000477126.1",
"transcript_support_level": 3,
"aa_start": 58,
"aa_end": null,
"aa_length": 132,
"cds_start": 174,
"cds_end": null,
"cds_length": 401,
"cdna_start": 487,
"cdna_end": null,
"cdna_length": 714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF596",
"gene_hgnc_id": 27268,
"hgvs_c": "c.174A>T",
"hgvs_p": "p.Gln58His",
"transcript": "NM_001042415.3",
"protein_id": "NP_001035880.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 504,
"cds_start": 174,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 415,
"cdna_end": null,
"cdna_length": 2733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF596",
"gene_hgnc_id": 27268,
"hgvs_c": "c.174A>T",
"hgvs_p": "p.Gln58His",
"transcript": "NM_001287254.2",
"protein_id": "NP_001274183.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 504,
"cds_start": 174,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 496,
"cdna_end": null,
"cdna_length": 2814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF596",
"gene_hgnc_id": 27268,
"hgvs_c": "c.174A>T",
"hgvs_p": "p.Gln58His",
"transcript": "NM_001287255.1",
"protein_id": "NP_001274184.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 504,
"cds_start": 174,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 377,
"cdna_end": null,
"cdna_length": 2696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF596",
"gene_hgnc_id": 27268,
"hgvs_c": "c.174A>T",
"hgvs_p": "p.Gln58His",
"transcript": "NM_001287256.1",
"protein_id": "NP_001274185.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 504,
"cds_start": 174,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 373,
"cdna_end": null,
"cdna_length": 2692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF596",
"gene_hgnc_id": 27268,
"hgvs_c": "c.174A>T",
"hgvs_p": "p.Gln58His",
"transcript": "NM_173539.3",
"protein_id": "NP_775810.2",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 504,
"cds_start": 174,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 462,
"cdna_end": null,
"cdna_length": 2781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF596",
"gene_hgnc_id": 27268,
"hgvs_c": "c.174A>T",
"hgvs_p": "p.Gln58His",
"transcript": "ENST00000320552.6",
"protein_id": "ENSP00000318719.3",
"transcript_support_level": 4,
"aa_start": 58,
"aa_end": null,
"aa_length": 504,
"cds_start": 174,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 377,
"cdna_end": null,
"cdna_length": 2696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF596",
"gene_hgnc_id": 27268,
"hgvs_c": "c.174A>T",
"hgvs_p": "p.Gln58His",
"transcript": "ENST00000640035.1",
"protein_id": "ENSP00000491031.1",
"transcript_support_level": 5,
"aa_start": 58,
"aa_end": null,
"aa_length": 169,
"cds_start": 174,
"cds_end": null,
"cds_length": 510,
"cdna_start": 297,
"cdna_end": null,
"cdna_length": 1163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF596",
"gene_hgnc_id": 27268,
"hgvs_c": "c.174A>T",
"hgvs_p": "p.Gln58His",
"transcript": "ENST00000521145.5",
"protein_id": "ENSP00000429671.1",
"transcript_support_level": 4,
"aa_start": 58,
"aa_end": null,
"aa_length": 145,
"cds_start": 174,
"cds_end": null,
"cds_length": 440,
"cdna_start": 377,
"cdna_end": null,
"cdna_length": 643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF596",
"gene_hgnc_id": 27268,
"hgvs_c": "c.174A>T",
"hgvs_p": "p.Gln58His",
"transcript": "ENST00000518414.5",
"protein_id": "ENSP00000430552.1",
"transcript_support_level": 4,
"aa_start": 58,
"aa_end": null,
"aa_length": 72,
"cds_start": 174,
"cds_end": null,
"cds_length": 219,
"cdna_start": 519,
"cdna_end": null,
"cdna_length": 564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF596",
"gene_hgnc_id": 27268,
"hgvs_c": "c.69A>T",
"hgvs_p": "p.Gln23His",
"transcript": "ENST00000518320.6",
"protein_id": "ENSP00000476799.1",
"transcript_support_level": 4,
"aa_start": 23,
"aa_end": null,
"aa_length": 68,
"cds_start": 69,
"cds_end": null,
"cds_length": 207,
"cdna_start": 384,
"cdna_end": null,
"cdna_length": 522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF596",
"gene_hgnc_id": 27268,
"hgvs_c": "c.174A>T",
"hgvs_p": "p.Gln58His",
"transcript": "XM_047421414.1",
"protein_id": "XP_047277370.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 504,
"cds_start": 174,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 8287,
"cdna_end": null,
"cdna_length": 10606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF596",
"gene_hgnc_id": 27268,
"hgvs_c": "c.69A>T",
"hgvs_p": "p.Gln23His",
"transcript": "XM_011534744.2",
"protein_id": "XP_011533046.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 469,
"cds_start": 69,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 215,
"cdna_end": null,
"cdna_length": 2534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF596",
"gene_hgnc_id": 27268,
"hgvs_c": "n.174A>T",
"hgvs_p": null,
"transcript": "ENST00000523162.5",
"protein_id": "ENSP00000430650.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF596",
"gene_hgnc_id": 27268,
"hgvs_c": "n.435A>T",
"hgvs_p": null,
"transcript": "ENST00000523333.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF596",
"gene_hgnc_id": 27268,
"hgvs_c": "n.1186A>T",
"hgvs_p": null,
"transcript": "ENST00000523418.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF596",
"gene_hgnc_id": 27268,
"hgvs_c": "c.-224A>T",
"hgvs_p": null,
"transcript": "NM_001287399.1",
"protein_id": "NP_001274328.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 371,
"cds_start": -4,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288985",
"gene_hgnc_id": null,
"hgvs_c": "n.685-5501T>A",
"hgvs_p": null,
"transcript": "ENST00000805905.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288985",
"gene_hgnc_id": null,
"hgvs_c": "n.674-5449T>A",
"hgvs_p": null,
"transcript": "ENST00000805906.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288985",
"gene_hgnc_id": null,
"hgvs_c": "n.775-5501T>A",
"hgvs_p": null,
"transcript": "ENST00000805907.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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