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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: X-154776834-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=154776834&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 154776834,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000369550.10",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "c.1512G>T",
"hgvs_p": "p.Lys504Asn",
"transcript": "NM_001363.5",
"protein_id": "NP_001354.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 514,
"cds_start": 1512,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1614,
"cdna_end": null,
"cdna_length": 2469,
"mane_select": "ENST00000369550.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "c.1512G>T",
"hgvs_p": "p.Lys504Asn",
"transcript": "ENST00000369550.10",
"protein_id": "ENSP00000358563.5",
"transcript_support_level": 1,
"aa_start": 504,
"aa_end": null,
"aa_length": 514,
"cds_start": 1512,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1614,
"cdna_end": null,
"cdna_length": 2469,
"mane_select": "NM_001363.5",
"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": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "n.2225G>T",
"hgvs_p": null,
"transcript": "ENST00000620277.4",
"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": 3079,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "c.1497G>T",
"hgvs_p": "p.Lys499Asn",
"transcript": "NM_001142463.3",
"protein_id": "NP_001135935.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 509,
"cds_start": 1497,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 1599,
"cdna_end": null,
"cdna_length": 2454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "c.1497G>T",
"hgvs_p": "p.Lys499Asn",
"transcript": "ENST00000696575.1",
"protein_id": "ENSP00000512730.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 509,
"cds_start": 1497,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 1610,
"cdna_end": null,
"cdna_length": 2004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "c.1511G>T",
"hgvs_p": "p.Arg504Ile",
"transcript": "ENST00000696628.1",
"protein_id": "ENSP00000512765.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 508,
"cds_start": 1511,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1562,
"cdna_end": null,
"cdna_length": 2412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "c.1473G>T",
"hgvs_p": "p.Lys491Asn",
"transcript": "ENST00000696583.1",
"protein_id": "ENSP00000512736.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 501,
"cds_start": 1473,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 1558,
"cdna_end": null,
"cdna_length": 2384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "c.1425G>T",
"hgvs_p": "p.Lys475Asn",
"transcript": "ENST00000696580.1",
"protein_id": "ENSP00000512733.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 485,
"cds_start": 1425,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 1523,
"cdna_end": null,
"cdna_length": 2354,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "c.1392G>T",
"hgvs_p": "p.Lys464Asn",
"transcript": "ENST00000696587.1",
"protein_id": "ENSP00000512737.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 474,
"cds_start": 1392,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1407,
"cdna_end": null,
"cdna_length": 2236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "c.903G>T",
"hgvs_p": "p.Lys301Asn",
"transcript": "ENST00000696588.1",
"protein_id": "ENSP00000513251.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 311,
"cds_start": 903,
"cds_end": null,
"cds_length": 936,
"cdna_start": 2633,
"cdna_end": null,
"cdna_length": 3463,
"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": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "n.*308G>T",
"hgvs_p": null,
"transcript": "ENST00000413910.6",
"protein_id": "ENSP00000400542.2",
"transcript_support_level": 5,
"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": 2516,
"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": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "n.*954G>T",
"hgvs_p": null,
"transcript": "ENST00000426673.6",
"protein_id": "ENSP00000407253.3",
"transcript_support_level": 5,
"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": 2571,
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "n.1786G>T",
"hgvs_p": null,
"transcript": "ENST00000484317.6",
"protein_id": null,
"transcript_support_level": 2,
"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": 2617,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "n.450G>T",
"hgvs_p": null,
"transcript": "ENST00000492372.2",
"protein_id": null,
"transcript_support_level": 2,
"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": 1303,
"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": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "n.*464G>T",
"hgvs_p": null,
"transcript": "ENST00000696578.1",
"protein_id": "ENSP00000512732.1",
"transcript_support_level": null,
"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": 2322,
"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": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "n.2527G>T",
"hgvs_p": null,
"transcript": "ENST00000696579.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 3357,
"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": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "n.*1486G>T",
"hgvs_p": null,
"transcript": "ENST00000696581.1",
"protein_id": "ENSP00000512734.1",
"transcript_support_level": null,
"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": 2553,
"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": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "n.*718G>T",
"hgvs_p": null,
"transcript": "ENST00000696582.1",
"protein_id": "ENSP00000512735.1",
"transcript_support_level": null,
"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": 2292,
"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": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "n.2036G>T",
"hgvs_p": null,
"transcript": "ENST00000696584.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 2363,
"mane_select": null,
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"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": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "n.2155G>T",
"hgvs_p": null,
"transcript": "ENST00000696585.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 2482,
"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": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "n.1929G>T",
"hgvs_p": null,
"transcript": "ENST00000696586.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 2256,
"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": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "n.1287G>T",
"hgvs_p": null,
"transcript": "ENST00000696589.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2116,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "n.2538G>T",
"hgvs_p": null,
"transcript": "ENST00000696590.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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}
],
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}