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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: 6-31154538-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31154538&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 31154538,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000396268.8",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.759C>G",
"hgvs_p": "p.Ser253Arg",
"transcript": "NM_001105564.2",
"protein_id": "NP_001099034.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 871,
"cds_start": 759,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 2971,
"mane_select": "ENST00000396268.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.759C>G",
"hgvs_p": "p.Ser253Arg",
"transcript": "ENST00000396268.8",
"protein_id": "ENSP00000379566.3",
"transcript_support_level": 1,
"aa_start": 253,
"aa_end": null,
"aa_length": 871,
"cds_start": 759,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 2971,
"mane_select": "NM_001105564.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.651C>G",
"hgvs_p": "p.Ser217Arg",
"transcript": "ENST00000451521.6",
"protein_id": "ENSP00000401039.2",
"transcript_support_level": 1,
"aa_start": 217,
"aa_end": null,
"aa_length": 835,
"cds_start": 651,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 658,
"cdna_end": null,
"cdna_length": 2587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.492C>G",
"hgvs_p": "p.Ser164Arg",
"transcript": "ENST00000376266.9",
"protein_id": "ENSP00000365442.5",
"transcript_support_level": 1,
"aa_start": 164,
"aa_end": null,
"aa_length": 782,
"cds_start": 492,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 615,
"cdna_end": null,
"cdna_length": 2625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "n.633C>G",
"hgvs_p": null,
"transcript": "ENST00000509552.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 2304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.786C>G",
"hgvs_p": "p.Ser262Arg",
"transcript": "NM_001394641.1",
"protein_id": "NP_001381570.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 880,
"cds_start": 786,
"cds_end": null,
"cds_length": 2643,
"cdna_start": 988,
"cdna_end": null,
"cdna_length": 2998,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.651C>G",
"hgvs_p": "p.Ser217Arg",
"transcript": "NM_001105563.3",
"protein_id": "NP_001099033.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 835,
"cds_start": 651,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 853,
"cdna_end": null,
"cdna_length": 2863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.492C>G",
"hgvs_p": "p.Ser164Arg",
"transcript": "NM_001394642.1",
"protein_id": "NP_001381571.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 782,
"cds_start": 492,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 690,
"cdna_end": null,
"cdna_length": 2700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.492C>G",
"hgvs_p": "p.Ser164Arg",
"transcript": "NM_001394643.1",
"protein_id": "NP_001381572.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 782,
"cds_start": 492,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 717,
"cdna_end": null,
"cdna_length": 2727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.492C>G",
"hgvs_p": "p.Ser164Arg",
"transcript": "NM_001394644.1",
"protein_id": "NP_001381573.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 782,
"cds_start": 492,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 640,
"cdna_end": null,
"cdna_length": 2650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.492C>G",
"hgvs_p": "p.Ser164Arg",
"transcript": "NM_019052.4",
"protein_id": "NP_061925.2",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 782,
"cds_start": 492,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 574,
"cdna_end": null,
"cdna_length": 2584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.492C>G",
"hgvs_p": "p.Ser164Arg",
"transcript": "NM_001394646.1",
"protein_id": "NP_001381575.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 779,
"cds_start": 492,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 690,
"cdna_end": null,
"cdna_length": 2691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.414C>G",
"hgvs_p": "p.Ser138Arg",
"transcript": "NM_001394647.1",
"protein_id": "NP_001381576.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 756,
"cds_start": 414,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 2517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.384C>G",
"hgvs_p": "p.Ser128Arg",
"transcript": "NM_001394648.1",
"protein_id": "NP_001381577.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 746,
"cds_start": 384,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 466,
"cdna_end": null,
"cdna_length": 2476,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.492C>G",
"hgvs_p": "p.Ser164Arg",
"transcript": "ENST00000396263.6",
"protein_id": "ENSP00000379561.2",
"transcript_support_level": 5,
"aa_start": 164,
"aa_end": null,
"aa_length": 729,
"cds_start": 492,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 644,
"cdna_end": null,
"cdna_length": 2490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.135C>G",
"hgvs_p": "p.Ser45Arg",
"transcript": "NM_001394649.1",
"protein_id": "NP_001381578.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 663,
"cds_start": 135,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 293,
"cdna_end": null,
"cdna_length": 2303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.384C>G",
"hgvs_p": "p.Ser128Arg",
"transcript": "ENST00000448141.6",
"protein_id": "ENSP00000414323.2",
"transcript_support_level": 3,
"aa_start": 128,
"aa_end": null,
"aa_length": 190,
"cds_start": 384,
"cds_end": null,
"cds_length": 574,
"cdna_start": 474,
"cdna_end": null,
"cdna_length": 664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.492C>G",
"hgvs_p": "p.Ser164Arg",
"transcript": "ENST00000448162.6",
"protein_id": "ENSP00000390027.2",
"transcript_support_level": 5,
"aa_start": 164,
"aa_end": null,
"aa_length": 187,
"cds_start": 492,
"cds_end": null,
"cds_length": 565,
"cdna_start": 626,
"cdna_end": null,
"cdna_length": 699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.384C>G",
"hgvs_p": "p.Ser128Arg",
"transcript": "ENST00000508683.5",
"protein_id": "ENSP00000421393.1",
"transcript_support_level": 4,
"aa_start": 128,
"aa_end": null,
"aa_length": 158,
"cds_start": 384,
"cds_end": null,
"cds_length": 479,
"cdna_start": 472,
"cdna_end": null,
"cdna_length": 567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.414C>G",
"hgvs_p": "p.Ser138Arg",
"transcript": "ENST00000513222.1",
"protein_id": "ENSP00000425682.1",
"transcript_support_level": 4,
"aa_start": 138,
"aa_end": null,
"aa_length": 139,
"cds_start": 414,
"cds_end": null,
"cds_length": 421,
"cdna_start": 504,
"cdna_end": null,
"cdna_length": 511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.678C>G",
"hgvs_p": "p.Ser226Arg",
"transcript": "XM_011514702.3",
"protein_id": "XP_011513004.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 844,
"cds_start": 678,
"cds_end": null,
"cds_length": 2535,
"cdna_start": 880,
"cdna_end": null,
"cdna_length": 2890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.492C>G",
"hgvs_p": "p.Ser164Arg",
"transcript": "XM_017010963.2",
"protein_id": "XP_016866452.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 782,
"cds_start": 492,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 885,
"cdna_end": null,
"cdna_length": 2895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.492C>G",
"hgvs_p": "p.Ser164Arg",
"transcript": "XM_017010964.2",
"protein_id": "XP_016866453.1",
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{
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"custom_annotations": null
}
],
"message": null
}