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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: 16-10972947-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=10972947&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 10972947,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015226.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC16A",
"gene_hgnc_id": 29013,
"hgvs_c": "c.614A>C",
"hgvs_p": "p.Gln205Pro",
"transcript": "NM_015226.3",
"protein_id": "NP_056041.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 1053,
"cds_start": 614,
"cds_end": null,
"cds_length": 3162,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 6812,
"mane_select": "ENST00000409790.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC16A",
"gene_hgnc_id": 29013,
"hgvs_c": "c.614A>C",
"hgvs_p": "p.Gln205Pro",
"transcript": "ENST00000409790.6",
"protein_id": "ENSP00000387122.1",
"transcript_support_level": 5,
"aa_start": 205,
"aa_end": null,
"aa_length": 1053,
"cds_start": 614,
"cds_end": null,
"cds_length": 3162,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 6812,
"mane_select": "NM_015226.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC16A",
"gene_hgnc_id": 29013,
"hgvs_c": "c.608A>C",
"hgvs_p": "p.Gln203Pro",
"transcript": "ENST00000409552.4",
"protein_id": "ENSP00000386495.3",
"transcript_support_level": 1,
"aa_start": 203,
"aa_end": null,
"aa_length": 906,
"cds_start": 608,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 745,
"cdna_end": null,
"cdna_length": 3365,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC16A",
"gene_hgnc_id": 29013,
"hgvs_c": "c.608A>C",
"hgvs_p": "p.Gln203Pro",
"transcript": "NM_001410905.1",
"protein_id": "NP_001397834.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 1051,
"cds_start": 608,
"cds_end": null,
"cds_length": 3156,
"cdna_start": 762,
"cdna_end": null,
"cdna_length": 6806,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC16A",
"gene_hgnc_id": 29013,
"hgvs_c": "c.608A>C",
"hgvs_p": "p.Gln203Pro",
"transcript": "ENST00000703130.1",
"protein_id": "ENSP00000515187.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 1051,
"cds_start": 608,
"cds_end": null,
"cds_length": 3156,
"cdna_start": 787,
"cdna_end": null,
"cdna_length": 6827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC16A",
"gene_hgnc_id": 29013,
"hgvs_c": "c.608A>C",
"hgvs_p": "p.Gln203Pro",
"transcript": "NM_001243403.2",
"protein_id": "NP_001230332.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 906,
"cds_start": 608,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 762,
"cdna_end": null,
"cdna_length": 2939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC16A",
"gene_hgnc_id": 29013,
"hgvs_c": "c.614A>C",
"hgvs_p": "p.Gln205Pro",
"transcript": "XM_005255211.3",
"protein_id": "XP_005255268.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 1037,
"cds_start": 614,
"cds_end": null,
"cds_length": 3114,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 6764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC16A",
"gene_hgnc_id": 29013,
"hgvs_c": "c.608A>C",
"hgvs_p": "p.Gln203Pro",
"transcript": "XM_005255213.3",
"protein_id": "XP_005255270.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 1035,
"cds_start": 608,
"cds_end": null,
"cds_length": 3108,
"cdna_start": 762,
"cdna_end": null,
"cdna_length": 6758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC16A",
"gene_hgnc_id": 29013,
"hgvs_c": "c.614A>C",
"hgvs_p": "p.Gln205Pro",
"transcript": "XM_011522434.3",
"protein_id": "XP_011520736.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 1010,
"cds_start": 614,
"cds_end": null,
"cds_length": 3033,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 6683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC16A",
"gene_hgnc_id": 29013,
"hgvs_c": "c.608A>C",
"hgvs_p": "p.Gln203Pro",
"transcript": "XM_047433847.1",
"protein_id": "XP_047289803.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 1008,
"cds_start": 608,
"cds_end": null,
"cds_length": 3027,
"cdna_start": 762,
"cdna_end": null,
"cdna_length": 6677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC16A",
"gene_hgnc_id": 29013,
"hgvs_c": "c.614A>C",
"hgvs_p": "p.Gln205Pro",
"transcript": "XM_005255214.3",
"protein_id": "XP_005255271.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 998,
"cds_start": 614,
"cds_end": null,
"cds_length": 2997,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 6647,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
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"gene_symbol": "CLEC16A",
"gene_hgnc_id": 29013,
"hgvs_c": "c.608A>C",
"hgvs_p": "p.Gln203Pro",
"transcript": "XM_047433848.1",
"protein_id": "XP_047289804.1",
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"aa_start": 203,
"aa_end": null,
"aa_length": 996,
"cds_start": 608,
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"cdna_start": 762,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC16A",
"gene_hgnc_id": 29013,
"hgvs_c": "c.608A>C",
"hgvs_p": "p.Gln203Pro",
"transcript": "XM_047433850.1",
"protein_id": "XP_047289806.1",
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"aa_start": 203,
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"aa_length": 992,
"cds_start": 608,
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"cdna_start": 762,
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"mane_select": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 7,
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"exon_count": 23,
"intron_rank": null,
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"gene_symbol": "CLEC16A",
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"hgvs_c": "c.614A>C",
"hgvs_p": "p.Gln205Pro",
"transcript": "XM_047433851.1",
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},
{
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"strand": true,
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],
"exon_rank": 6,
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"exon_count": 22,
"intron_rank": null,
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"gene_symbol": "CLEC16A",
"gene_hgnc_id": 29013,
"hgvs_c": "c.608A>C",
"hgvs_p": "p.Gln203Pro",
"transcript": "XM_047433852.1",
"protein_id": "XP_047289808.1",
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"aa_start": 203,
"aa_end": null,
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"cds_start": 608,
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"cdna_start": 762,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
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"gene_symbol": "CLEC16A",
"gene_hgnc_id": 29013,
"hgvs_c": "c.614A>C",
"hgvs_p": "p.Gln205Pro",
"transcript": "XM_047433853.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
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"gene_symbol": "CLEC16A",
"gene_hgnc_id": 29013,
"hgvs_c": "c.608A>C",
"hgvs_p": "p.Gln203Pro",
"transcript": "XM_047433854.1",
"protein_id": "XP_047289810.1",
"transcript_support_level": null,
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"cds_start": 608,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
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"gene_symbol": "CLEC16A",
"gene_hgnc_id": 29013,
"hgvs_c": "c.614A>C",
"hgvs_p": "p.Gln205Pro",
"transcript": "XM_011522436.4",
"protein_id": "XP_011520738.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
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"cds_start": 614,
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"cdna_start": 768,
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},
{
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"consequences": [
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],
"exon_rank": 7,
"exon_rank_end": null,
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"intron_rank": null,
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"gene_symbol": "CLEC16A",
"gene_hgnc_id": 29013,
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"hgvs_p": "p.Gln205Pro",
"transcript": "XM_011522437.4",
"protein_id": "XP_011520739.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": 7,
"exon_rank_end": null,
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"intron_rank": null,
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"gene_symbol": "CLEC16A",
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"hgvs_c": "c.614A>C",
"hgvs_p": "p.Gln205Pro",
"transcript": "XM_047433855.1",
"protein_id": "XP_047289811.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": 6,
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"intron_rank": null,
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"gene_symbol": "CLEC16A",
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"hgvs_c": "c.608A>C",
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"transcript": "XM_047433856.1",
"protein_id": "XP_047289812.1",
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"cds_start": 608,
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"cdna_start": 762,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC16A",
"gene_hgnc_id": 29013,
"hgvs_c": "c.608A>C",
"hgvs_p": "p.Gln203Pro",
"transcript": "XM_047433857.1",
"protein_id": "XP_047289813.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 933,
"cds_start": 608,
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"cds_length": 2802,
"cdna_start": 762,
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"cdna_length": 3953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC16A",
"gene_hgnc_id": 29013,
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