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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: 6-10808913-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=10808913&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 10808913,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000354489.7",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "c.388A>C",
"hgvs_p": "p.Asn130His",
"transcript": "NM_001242957.3",
"protein_id": "NP_001229886.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 648,
"cds_start": 388,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 654,
"cdna_end": null,
"cdna_length": 3942,
"mane_select": "ENST00000354489.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "c.388A>C",
"hgvs_p": "p.Asn130His",
"transcript": "ENST00000354489.7",
"protein_id": "ENSP00000346484.3",
"transcript_support_level": 5,
"aa_start": 130,
"aa_end": null,
"aa_length": 648,
"cds_start": 388,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 654,
"cdna_end": null,
"cdna_length": 3942,
"mane_select": "NM_001242957.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "c.388A>C",
"hgvs_p": "p.Asn130His",
"transcript": "ENST00000474039.5",
"protein_id": "ENSP00000476067.1",
"transcript_support_level": 1,
"aa_start": 130,
"aa_end": null,
"aa_length": 623,
"cds_start": 388,
"cds_end": null,
"cds_length": 1872,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 3859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "c.388A>C",
"hgvs_p": "p.Asn130His",
"transcript": "ENST00000536370.6",
"protein_id": "ENSP00000442221.2",
"transcript_support_level": 1,
"aa_start": 130,
"aa_end": null,
"aa_length": 583,
"cds_start": 388,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 645,
"cdna_end": null,
"cdna_length": 3736,
"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": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "n.388A>C",
"hgvs_p": null,
"transcript": "ENST00000538030.3",
"protein_id": "ENSP00000442250.1",
"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": 2508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TMEM14B",
"gene_hgnc_id": 21384,
"hgvs_c": "n.*120+38709T>G",
"hgvs_p": null,
"transcript": "ENST00000463448.5",
"protein_id": "ENSP00000419208.1",
"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": 1589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000272162",
"gene_hgnc_id": null,
"hgvs_c": "n.100+59215T>G",
"hgvs_p": null,
"transcript": "ENST00000480294.1",
"protein_id": "ENSP00000417929.1",
"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": 1589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "c.388A>C",
"hgvs_p": "p.Asn130His",
"transcript": "NM_005906.6",
"protein_id": "NP_005897.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 623,
"cds_start": 388,
"cds_end": null,
"cds_length": 1872,
"cdna_start": 654,
"cdna_end": null,
"cdna_length": 3867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "c.388A>C",
"hgvs_p": "p.Asn130His",
"transcript": "ENST00000313243.6",
"protein_id": "ENSP00000313021.2",
"transcript_support_level": 5,
"aa_start": 130,
"aa_end": null,
"aa_length": 623,
"cds_start": 388,
"cds_end": null,
"cds_length": 1872,
"cdna_start": 771,
"cdna_end": null,
"cdna_length": 3984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "c.388A>C",
"hgvs_p": "p.Asn130His",
"transcript": "NM_001242385.2",
"protein_id": "NP_001229314.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 583,
"cds_start": 388,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 675,
"cdna_end": null,
"cdna_length": 3768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "c.286A>C",
"hgvs_p": "p.Asn96His",
"transcript": "NM_001377262.1",
"protein_id": "NP_001364191.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 549,
"cds_start": 286,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 324,
"cdna_end": null,
"cdna_length": 3417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "c.286A>C",
"hgvs_p": "p.Asn96His",
"transcript": "ENST00000676116.1",
"protein_id": "ENSP00000502045.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 549,
"cds_start": 286,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 3343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "c.388A>C",
"hgvs_p": "p.Asn130His",
"transcript": "XM_011514619.3",
"protein_id": "XP_011512921.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 648,
"cds_start": 388,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 815,
"cdna_end": null,
"cdna_length": 4103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "c.388A>C",
"hgvs_p": "p.Asn130His",
"transcript": "XM_011514620.3",
"protein_id": "XP_011512922.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 648,
"cds_start": 388,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 3924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "c.388A>C",
"hgvs_p": "p.Asn130His",
"transcript": "XM_011514622.4",
"protein_id": "XP_011512924.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 583,
"cds_start": 388,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 654,
"cdna_end": null,
"cdna_length": 3747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "c.388A>C",
"hgvs_p": "p.Asn130His",
"transcript": "XM_047418774.1",
"protein_id": "XP_047274730.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 501,
"cds_start": 388,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 654,
"cdna_end": null,
"cdna_length": 1827,
"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": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "n.388A>C",
"hgvs_p": null,
"transcript": "ENST00000675026.1",
"protein_id": "ENSP00000502542.1",
"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": 2668,
"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": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "n.654A>C",
"hgvs_p": null,
"transcript": "NR_134935.2",
"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": 3972,
"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": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "n.815A>C",
"hgvs_p": null,
"transcript": "NR_134936.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 4200,
"mane_select": null,
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"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": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "n.654A>C",
"hgvs_p": null,
"transcript": "XR_001743419.3",
"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": 1645,
"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": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "n.654A>C",
"hgvs_p": null,
"transcript": "XR_007059266.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"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": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "n.654A>C",
"hgvs_p": null,
"transcript": "XR_926215.4",
"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": 4105,
"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": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "n.654A>C",
"hgvs_p": null,
"transcript": "XR_926220.4",
"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,
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],
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"computational_prediction_selected": "Pathogenic",
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"bayesdelnoaf_prediction": "Pathogenic",
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"acmg_classification": "Pathogenic",
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"acmg_by_gene": [
{
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"criteria": [
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"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Pathogenic",
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"effects": [
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"inheritance_mode": "AR,AD",
"hgvs_c": "c.388A>C",
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{
"score": 8,
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"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000480294.1",
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"effects": [
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],
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{
"score": 8,
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"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
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],
"clinvar_disease": "Retinal dystrophy,Retinitis pigmentosa 62",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Retinitis pigmentosa 62|Retinal dystrophy",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}