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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: 12-31083891-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=31083891&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 31083891,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000542838.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.223C>G",
"hgvs_p": "p.Arg75Gly",
"transcript": "NM_030653.4",
"protein_id": "NP_085911.2",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 906,
"cds_start": 223,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 459,
"cdna_end": null,
"cdna_length": 3920,
"mane_select": "ENST00000542838.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.223C>G",
"hgvs_p": "p.Arg75Gly",
"transcript": "ENST00000542838.6",
"protein_id": "ENSP00000443426.1",
"transcript_support_level": 1,
"aa_start": 75,
"aa_end": null,
"aa_length": 906,
"cds_start": 223,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 459,
"cdna_end": null,
"cdna_length": 3920,
"mane_select": "NM_030653.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.223C>G",
"hgvs_p": "p.Arg75Gly",
"transcript": "ENST00000545668.5",
"protein_id": "ENSP00000440402.1",
"transcript_support_level": 1,
"aa_start": 75,
"aa_end": null,
"aa_length": 970,
"cds_start": 223,
"cds_end": null,
"cds_length": 2913,
"cdna_start": 303,
"cdna_end": null,
"cdna_length": 3751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.145C>G",
"hgvs_p": "p.Arg49Gly",
"transcript": "ENST00000228264.10",
"protein_id": "ENSP00000228264.6",
"transcript_support_level": 1,
"aa_start": 49,
"aa_end": null,
"aa_length": 880,
"cds_start": 145,
"cds_end": null,
"cds_length": 2643,
"cdna_start": 264,
"cdna_end": null,
"cdna_length": 3717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.223C>G",
"hgvs_p": "p.Arg75Gly",
"transcript": "ENST00000350437.8",
"protein_id": "ENSP00000309965.5",
"transcript_support_level": 1,
"aa_start": 75,
"aa_end": null,
"aa_length": 856,
"cds_start": 223,
"cds_end": null,
"cds_length": 2571,
"cdna_start": 421,
"cdna_end": null,
"cdna_length": 3724,
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "n.223C>G",
"hgvs_p": null,
"transcript": "ENST00000542244.5",
"protein_id": "ENSP00000441425.1",
"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": 1193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.223C>G",
"hgvs_p": "p.Arg75Gly",
"transcript": "NM_001257144.2",
"protein_id": "NP_001244073.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 970,
"cds_start": 223,
"cds_end": null,
"cds_length": 2913,
"cdna_start": 337,
"cdna_end": null,
"cdna_length": 3793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.223C>G",
"hgvs_p": "p.Arg75Gly",
"transcript": "NM_001413695.1",
"protein_id": "NP_001400624.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 970,
"cds_start": 223,
"cds_end": null,
"cds_length": 2913,
"cdna_start": 547,
"cdna_end": null,
"cdna_length": 4003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.223C>G",
"hgvs_p": "p.Arg75Gly",
"transcript": "NM_001413696.1",
"protein_id": "NP_001400625.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 970,
"cds_start": 223,
"cds_end": null,
"cds_length": 2913,
"cdna_start": 290,
"cdna_end": null,
"cdna_length": 3746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.223C>G",
"hgvs_p": "p.Arg75Gly",
"transcript": "NM_152438.2",
"protein_id": "NP_689651.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 970,
"cds_start": 223,
"cds_end": null,
"cds_length": 2913,
"cdna_start": 459,
"cdna_end": null,
"cdna_length": 3915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.145C>G",
"hgvs_p": "p.Arg49Gly",
"transcript": "NM_001413699.1",
"protein_id": "NP_001400628.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 944,
"cds_start": 145,
"cds_end": null,
"cds_length": 2835,
"cdna_start": 386,
"cdna_end": null,
"cdna_length": 3842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.223C>G",
"hgvs_p": "p.Arg75Gly",
"transcript": "NM_001413692.1",
"protein_id": "NP_001400621.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 906,
"cds_start": 223,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 337,
"cdna_end": null,
"cdna_length": 3798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.223C>G",
"hgvs_p": "p.Arg75Gly",
"transcript": "NM_001413693.1",
"protein_id": "NP_001400622.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 906,
"cds_start": 223,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 4031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.223C>G",
"hgvs_p": "p.Arg75Gly",
"transcript": "NM_001413694.1",
"protein_id": "NP_001400623.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 906,
"cds_start": 223,
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"cdna_start": 290,
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"cdna_length": 3751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.145C>G",
"hgvs_p": "p.Arg49Gly",
"transcript": "NM_001257145.2",
"protein_id": "NP_001244074.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 880,
"cds_start": 145,
"cds_end": null,
"cds_length": 2643,
"cdna_start": 264,
"cdna_end": null,
"cdna_length": 3725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.145C>G",
"hgvs_p": "p.Arg49Gly",
"transcript": "NM_001413697.1",
"protein_id": "NP_001400626.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 880,
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"cdna_start": 386,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.145C>G",
"hgvs_p": "p.Arg49Gly",
"transcript": "NM_001413698.1",
"protein_id": "NP_001400627.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 880,
"cds_start": 145,
"cds_end": null,
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"cdna_start": 217,
"cdna_end": null,
"cdna_length": 3678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.223C>G",
"hgvs_p": "p.Arg75Gly",
"transcript": "NM_001413700.1",
"protein_id": "NP_001400629.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 877,
"cds_start": 223,
"cds_end": null,
"cds_length": 2634,
"cdna_start": 459,
"cdna_end": null,
"cdna_length": 3833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.223C>G",
"hgvs_p": "p.Arg75Gly",
"transcript": "NM_004399.3",
"protein_id": "NP_004390.3",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
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"cds_start": 223,
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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": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.223C>G",
"hgvs_p": "p.Arg75Gly",
"transcript": "ENST00000438391.6",
"protein_id": "ENSP00000407646.2",
"transcript_support_level": 5,
"aa_start": 75,
"aa_end": null,
"aa_length": 301,
"cds_start": 223,
"cds_end": null,
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"cdna_start": 451,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.145C>G",
"hgvs_p": "p.Arg49Gly",
"transcript": "ENST00000415475.6",
"protein_id": "ENSP00000406457.2",
"transcript_support_level": 3,
"aa_start": 49,
"aa_end": null,
"aa_length": 223,
"cds_start": 145,
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"cdna_start": 354,
"cdna_end": null,
"cdna_length": 883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.331C>G",
"hgvs_p": "p.Arg111Gly",
"transcript": "ENST00000535317.5",
"protein_id": "ENSP00000440171.1",
"transcript_support_level": 3,
"aa_start": 111,
"aa_end": null,
"aa_length": 190,
"cds_start": 331,
"cds_end": null,
"cds_length": 575,
"cdna_start": 635,
"cdna_end": null,
"cdna_length": 879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.97C>G",
"hgvs_p": "p.Arg33Gly",
"transcript": "ENST00000544652.1",
"protein_id": "ENSP00000473610.1",
"transcript_support_level": 5,
"aa_start": 33,
"aa_end": null,
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}
],
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}