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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: 16-10761772-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=10761772&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 10761772,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000283027.10",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBP1",
"gene_hgnc_id": 8041,
"hgvs_c": "c.733T>C",
"hgvs_p": "p.Phe245Leu",
"transcript": "NM_002484.4",
"protein_id": "NP_002475.2",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 320,
"cds_start": 733,
"cds_end": null,
"cds_length": 963,
"cdna_start": 755,
"cdna_end": null,
"cdna_length": 1231,
"mane_select": "ENST00000283027.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBP1",
"gene_hgnc_id": 8041,
"hgvs_c": "c.733T>C",
"hgvs_p": "p.Phe245Leu",
"transcript": "ENST00000283027.10",
"protein_id": "ENSP00000283027.5",
"transcript_support_level": 1,
"aa_start": 245,
"aa_end": null,
"aa_length": 320,
"cds_start": 733,
"cds_end": null,
"cds_length": 963,
"cdna_start": 755,
"cdna_end": null,
"cdna_length": 1231,
"mane_select": "NM_002484.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBP1",
"gene_hgnc_id": 8041,
"hgvs_c": "c.700T>C",
"hgvs_p": "p.Phe234Leu",
"transcript": "ENST00000433392.6",
"protein_id": "ENSP00000409654.2",
"transcript_support_level": 1,
"aa_start": 234,
"aa_end": null,
"aa_length": 309,
"cds_start": 700,
"cds_end": null,
"cds_length": 930,
"cdna_start": 709,
"cdna_end": null,
"cdna_length": 1185,
"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": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBP1",
"gene_hgnc_id": 8041,
"hgvs_c": "n.756T>C",
"hgvs_p": null,
"transcript": "ENST00000571790.5",
"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": 1137,
"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": "NUBP1",
"gene_hgnc_id": 8041,
"hgvs_c": "n.629T>C",
"hgvs_p": null,
"transcript": "ENST00000574137.1",
"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": 969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TVP23A",
"gene_hgnc_id": 20398,
"hgvs_c": "n.*207-204A>G",
"hgvs_p": null,
"transcript": "ENST00000456096.6",
"protein_id": "ENSP00000411972.2",
"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": 1223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TVP23A",
"gene_hgnc_id": 20398,
"hgvs_c": "n.925-204A>G",
"hgvs_p": null,
"transcript": "ENST00000572980.5",
"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": 1574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TVP23A",
"gene_hgnc_id": 20398,
"hgvs_c": "n.927-204A>G",
"hgvs_p": null,
"transcript": "ENST00000573857.5",
"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": 1269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TVP23A",
"gene_hgnc_id": 20398,
"hgvs_c": "n.*207-204A>G",
"hgvs_p": null,
"transcript": "ENST00000575135.5",
"protein_id": "ENSP00000460567.1",
"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": 1298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBP1",
"gene_hgnc_id": 8041,
"hgvs_c": "c.700T>C",
"hgvs_p": "p.Phe234Leu",
"transcript": "NM_001278506.2",
"protein_id": "NP_001265435.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 309,
"cds_start": 700,
"cds_end": null,
"cds_length": 930,
"cdna_start": 722,
"cdna_end": null,
"cdna_length": 1198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBP1",
"gene_hgnc_id": 8041,
"hgvs_c": "c.733T>C",
"hgvs_p": "p.Phe245Leu",
"transcript": "NM_001323595.2",
"protein_id": "NP_001310524.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 292,
"cds_start": 733,
"cds_end": null,
"cds_length": 879,
"cdna_start": 755,
"cdna_end": null,
"cdna_length": 1147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBP1",
"gene_hgnc_id": 8041,
"hgvs_c": "c.664T>C",
"hgvs_p": "p.Phe222Leu",
"transcript": "NM_001323594.2",
"protein_id": "NP_001310523.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 269,
"cds_start": 664,
"cds_end": null,
"cds_length": 810,
"cdna_start": 686,
"cdna_end": null,
"cdna_length": 1078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBP1",
"gene_hgnc_id": 8041,
"hgvs_c": "c.586T>C",
"hgvs_p": "p.Phe196Leu",
"transcript": "NM_001323597.1",
"protein_id": "NP_001310526.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 244,
"cds_start": 586,
"cds_end": null,
"cds_length": 735,
"cdna_start": 728,
"cdna_end": null,
"cdna_length": 1201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBP1",
"gene_hgnc_id": 8041,
"hgvs_c": "c.280T>C",
"hgvs_p": "p.Phe94Leu",
"transcript": "ENST00000571175.5",
"protein_id": "ENSP00000460288.1",
"transcript_support_level": 2,
"aa_start": 94,
"aa_end": null,
"aa_length": 141,
"cds_start": 280,
"cds_end": null,
"cds_length": 426,
"cdna_start": 282,
"cdna_end": null,
"cdna_length": 674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBP1",
"gene_hgnc_id": 8041,
"hgvs_c": "c.700T>C",
"hgvs_p": "p.Phe234Leu",
"transcript": "XM_047434170.1",
"protein_id": "XP_047290126.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 281,
"cds_start": 700,
"cds_end": null,
"cds_length": 846,
"cdna_start": 722,
"cdna_end": null,
"cdna_length": 1114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NUBP1",
"gene_hgnc_id": 8041,
"hgvs_c": "c.717+298T>C",
"hgvs_p": null,
"transcript": "NM_001323596.2",
"protein_id": "NP_001310525.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 259,
"cds_start": -4,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
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"cdna_length": 1128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NUBP1",
"gene_hgnc_id": 8041,
"hgvs_c": "c.126+298T>C",
"hgvs_p": null,
"transcript": "ENST00000574691.1",
"protein_id": "ENSP00000461723.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 62,
"cds_start": -4,
"cds_end": null,
"cds_length": 189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TVP23A",
"gene_hgnc_id": 20398,
"hgvs_c": "n.*1996-204A>G",
"hgvs_p": null,
"transcript": "ENST00000649981.1",
"protein_id": "ENSP00000497634.1",
"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": 2909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TVP23A",
"gene_hgnc_id": 20398,
"hgvs_c": "n.1220-204A>G",
"hgvs_p": null,
"transcript": "NR_134901.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1876,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TVP23A",
"gene_hgnc_id": 20398,
"hgvs_c": "n.1150-204A>G",
"hgvs_p": null,
"transcript": "NR_134902.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TVP23A",
"gene_hgnc_id": 20398,
"hgvs_c": "n.1112-204A>G",
"hgvs_p": null,
"transcript": "NR_134903.2",
"protein_id": null,
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"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TVP23A",
"gene_hgnc_id": 20398,
"hgvs_c": "n.1075-204A>G",
"hgvs_p": null,
"transcript": "NR_134904.2",
"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": 1731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TVP23A",
"gene_hgnc_id": 20398,
"hgvs_c": "n.1005-204A>G",
"hgvs_p": null,
"transcript": "NR_134905.2",
"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": 1661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
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"splice_prediction_selected": "Benign",
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"phylop100way_prediction": "Pathogenic",
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"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"PP3_Moderate"
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"verdict": "Uncertain_significance",
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{
"score": 4,
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"PP3_Moderate"
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"verdict": "Uncertain_significance",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}