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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: 7-130398935-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=130398935&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 130398935,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000223208.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Arg360Cys",
"transcript": "NM_018718.3",
"protein_id": "NP_061188.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 373,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 1128,
"cdna_end": null,
"cdna_length": 6292,
"mane_select": "ENST00000223208.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Arg360Cys",
"transcript": "ENST00000223208.10",
"protein_id": "ENSP00000223208.4",
"transcript_support_level": 1,
"aa_start": 360,
"aa_end": null,
"aa_length": 373,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 1128,
"cdna_end": null,
"cdna_length": 6292,
"mane_select": "NM_018718.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.871C>T",
"hgvs_p": "p.Arg291Cys",
"transcript": "ENST00000343969.10",
"protein_id": "ENSP00000342738.6",
"transcript_support_level": 1,
"aa_start": 291,
"aa_end": null,
"aa_length": 304,
"cds_start": 871,
"cds_end": null,
"cds_length": 915,
"cdna_start": 921,
"cdna_end": null,
"cdna_length": 1012,
"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": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "n.*1250C>T",
"hgvs_p": null,
"transcript": "ENST00000484549.6",
"protein_id": "ENSP00000419078.2",
"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": 1868,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "n.761C>T",
"hgvs_p": null,
"transcript": "ENST00000485736.5",
"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": 2188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "n.*1250C>T",
"hgvs_p": null,
"transcript": "ENST00000484549.6",
"protein_id": "ENSP00000419078.2",
"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": 1868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.1123C>T",
"hgvs_p": "p.Arg375Cys",
"transcript": "ENST00000675138.1",
"protein_id": "ENSP00000501597.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 388,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 1123,
"cdna_end": null,
"cdna_length": 1190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.1087C>T",
"hgvs_p": "p.Arg363Cys",
"transcript": "ENST00000676243.1",
"protein_id": "ENSP00000501717.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 376,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 1180,
"cdna_end": null,
"cdna_length": 2541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.1069C>T",
"hgvs_p": "p.Arg357Cys",
"transcript": "ENST00000541543.6",
"protein_id": "ENSP00000445888.2",
"transcript_support_level": 2,
"aa_start": 357,
"aa_end": null,
"aa_length": 370,
"cds_start": 1069,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1082,
"cdna_end": null,
"cdna_length": 6246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.1069C>T",
"hgvs_p": "p.Arg357Cys",
"transcript": "ENST00000675935.1",
"protein_id": "ENSP00000501731.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 370,
"cds_start": 1069,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1181,
"cdna_end": null,
"cdna_length": 1272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.1039C>T",
"hgvs_p": "p.Arg347Cys",
"transcript": "ENST00000675803.1",
"protein_id": "ENSP00000502477.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 360,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 1360,
"cdna_end": null,
"cdna_length": 1700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.1039C>T",
"hgvs_p": "p.Arg347Cys",
"transcript": "ENST00000676312.1",
"protein_id": "ENSP00000502312.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 360,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 1297,
"cdna_end": null,
"cdna_length": 2721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.1030C>T",
"hgvs_p": "p.Arg344Cys",
"transcript": "ENST00000675168.1",
"protein_id": "ENSP00000501563.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 357,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 1084,
"cdna_end": null,
"cdna_length": 2478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Cys",
"transcript": "ENST00000675649.1",
"protein_id": "ENSP00000502385.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 312,
"cds_start": 895,
"cds_end": null,
"cds_length": 939,
"cdna_start": 948,
"cdna_end": null,
"cdna_length": 6112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.862C>T",
"hgvs_p": "p.Arg288Cys",
"transcript": "NM_001257158.2",
"protein_id": "NP_001244087.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 301,
"cds_start": 862,
"cds_end": null,
"cds_length": 906,
"cdna_start": 912,
"cdna_end": null,
"cdna_length": 6076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.862C>T",
"hgvs_p": "p.Arg288Cys",
"transcript": "ENST00000675596.1",
"protein_id": "ENSP00000501735.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 301,
"cds_start": 862,
"cds_end": null,
"cds_length": 906,
"cdna_start": 1133,
"cdna_end": null,
"cdna_length": 2589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.814C>T",
"hgvs_p": "p.Arg272Cys",
"transcript": "NM_001257159.2",
"protein_id": "NP_001244088.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 285,
"cds_start": 814,
"cds_end": null,
"cds_length": 858,
"cdna_start": 864,
"cdna_end": null,
"cdna_length": 6028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.814C>T",
"hgvs_p": "p.Arg272Cys",
"transcript": "ENST00000675962.1",
"protein_id": "ENSP00000502478.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 285,
"cds_start": 814,
"cds_end": null,
"cds_length": 858,
"cdna_start": 874,
"cdna_end": null,
"cdna_length": 1278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.469C>T",
"hgvs_p": "p.Arg157Cys",
"transcript": "ENST00000675563.1",
"protein_id": "ENSP00000502483.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 170,
"cds_start": 469,
"cds_end": null,
"cds_length": 513,
"cdna_start": 1077,
"cdna_end": null,
"cdna_length": 1165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.1123C>T",
"hgvs_p": "p.Arg375Cys",
"transcript": "XM_047421053.1",
"protein_id": "XP_047277009.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 388,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 1129,
"cdna_end": null,
"cdna_length": 6293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.1039C>T",
"hgvs_p": "p.Arg347Cys",
"transcript": "XM_024447004.2",
"protein_id": "XP_024302772.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 360,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 1363,
"cdna_end": null,
"cdna_length": 6527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.973C>T",
"hgvs_p": "p.Arg325Cys",
"transcript": "XM_011516709.4",
"protein_id": "XP_011515011.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 338,
"cds_start": 973,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 1242,
"cdna_end": null,
"cdna_length": 6406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.973C>T",
"hgvs_p": "p.Arg325Cys",
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}
],
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}