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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: 2-72465341-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=72465341&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 72465341,
"ref": "T",
"alt": "G",
"effect": "splice_acceptor_variant,intron_variant",
"transcript": "NM_001321729.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "EXOC6B",
"gene_hgnc_id": 17085,
"hgvs_c": "c.1801-2A>C",
"hgvs_p": null,
"transcript": "NM_015189.3",
"protein_id": "NP_056004.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 811,
"cds_start": null,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5910,
"mane_select": "ENST00000272427.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015189.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "EXOC6B",
"gene_hgnc_id": 17085,
"hgvs_c": "c.1801-2A>C",
"hgvs_p": null,
"transcript": "ENST00000272427.11",
"protein_id": "ENSP00000272427.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 811,
"cds_start": null,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5910,
"mane_select": "NM_015189.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000272427.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "EXOC6B",
"gene_hgnc_id": 17085,
"hgvs_c": "c.1801-2A>C",
"hgvs_p": null,
"transcript": "ENST00000410104.1",
"protein_id": "ENSP00000386698.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 681,
"cds_start": null,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5795,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000410104.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "EXOC6B",
"gene_hgnc_id": 17085,
"hgvs_c": "c.1873-2A>C",
"hgvs_p": null,
"transcript": "ENST00000971151.1",
"protein_id": "ENSP00000641210.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 839,
"cds_start": null,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5965,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971151.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "EXOC6B",
"gene_hgnc_id": 17085,
"hgvs_c": "c.1834-2A>C",
"hgvs_p": null,
"transcript": "ENST00000971153.1",
"protein_id": "ENSP00000641212.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 826,
"cds_start": null,
"cds_end": null,
"cds_length": 2481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5910,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971153.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "EXOC6B",
"gene_hgnc_id": 17085,
"hgvs_c": "c.1834-2A>C",
"hgvs_p": null,
"transcript": "ENST00000862930.1",
"protein_id": "ENSP00000532989.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 822,
"cds_start": null,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5961,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862930.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "EXOC6B",
"gene_hgnc_id": 17085,
"hgvs_c": "c.1801-2A>C",
"hgvs_p": null,
"transcript": "NM_001321729.2",
"protein_id": "NP_001308658.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 815,
"cds_start": null,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5922,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321729.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "EXOC6B",
"gene_hgnc_id": 17085,
"hgvs_c": "c.1801-2A>C",
"hgvs_p": null,
"transcript": "ENST00000634650.1",
"protein_id": "ENSP00000489442.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 815,
"cds_start": null,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2583,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000634650.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "EXOC6B",
"gene_hgnc_id": 17085,
"hgvs_c": "c.1795-2A>C",
"hgvs_p": null,
"transcript": "ENST00000862937.1",
"protein_id": "ENSP00000532996.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 809,
"cds_start": null,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2574,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862937.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "EXOC6B",
"gene_hgnc_id": 17085,
"hgvs_c": "c.1774-2A>C",
"hgvs_p": null,
"transcript": "ENST00000971149.1",
"protein_id": "ENSP00000641208.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 802,
"cds_start": null,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5884,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971149.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "EXOC6B",
"gene_hgnc_id": 17085,
"hgvs_c": "c.1753-2A>C",
"hgvs_p": null,
"transcript": "ENST00000971148.1",
"protein_id": "ENSP00000641207.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 799,
"cds_start": null,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5877,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971148.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "EXOC6B",
"gene_hgnc_id": 17085,
"hgvs_c": "c.1753-2A>C",
"hgvs_p": null,
"transcript": "ENST00000862931.1",
"protein_id": "ENSP00000532990.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 795,
"cds_start": null,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5871,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862931.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "EXOC6B",
"gene_hgnc_id": 17085,
"hgvs_c": "c.1732-2A>C",
"hgvs_p": null,
"transcript": "ENST00000971150.1",
"protein_id": "ENSP00000641209.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 792,
"cds_start": null,
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"cds_length": 2379,
"cdna_start": null,
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"cdna_length": 5842,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971150.1"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "EXOC6B",
"gene_hgnc_id": 17085,
"hgvs_c": "c.1732-2A>C",
"hgvs_p": null,
"transcript": "ENST00000862936.1",
"protein_id": "ENSP00000532995.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 788,
"cds_start": null,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3204,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862936.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "EXOC6B",
"gene_hgnc_id": 17085,
"hgvs_c": "c.1801-2A>C",
"hgvs_p": null,
"transcript": "NM_001321731.2",
"protein_id": "NP_001308660.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 774,
"cds_start": null,
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"cds_length": 2325,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321731.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "EXOC6B",
"gene_hgnc_id": 17085,
"hgvs_c": "c.1666-2A>C",
"hgvs_p": null,
"transcript": "NM_001321730.2",
"protein_id": "NP_001308659.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 770,
"cds_start": null,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5787,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321730.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "EXOC6B",
"gene_hgnc_id": 17085,
"hgvs_c": "c.1666-2A>C",
"hgvs_p": null,
"transcript": "NM_001321733.2",
"protein_id": "NP_001308662.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 766,
"cds_start": null,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5775,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321733.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "EXOC6B",
"gene_hgnc_id": 17085,
"hgvs_c": "c.1651-2A>C",
"hgvs_p": null,
"transcript": "ENST00000862934.1",
"protein_id": "ENSP00000532993.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 761,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862934.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "EXOC6B",
"gene_hgnc_id": 17085,
"hgvs_c": "c.1633-2A>C",
"hgvs_p": null,
"transcript": "ENST00000971152.1",
"protein_id": "ENSP00000641211.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cds_length": 2280,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971152.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "EXOC6B",
"gene_hgnc_id": 17085,
"hgvs_c": "c.1624-2A>C",
"hgvs_p": null,
"transcript": "ENST00000862932.1",
"protein_id": "ENSP00000532991.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 752,
"cds_start": null,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5732,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862932.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "EXOC6B",
"gene_hgnc_id": 17085,
"hgvs_c": "c.1462-2A>C",
"hgvs_p": null,
"transcript": "NM_001321734.2",
"protein_id": "NP_001308663.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 702,
"cds_start": null,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5756,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321734.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 13,
"intron_rank_end": null,
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"clinvar_review_status": "",
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}
],
"message": null
}