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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: 2-99439044-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=99439044&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 99439044,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000258428.8",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.770T>C",
"hgvs_p": "p.Phe257Ser",
"transcript": "NM_016316.4",
"protein_id": "NP_057400.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 1251,
"cds_start": 770,
"cds_end": null,
"cds_length": 3756,
"cdna_start": 981,
"cdna_end": null,
"cdna_length": 4731,
"mane_select": "ENST00000258428.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.770T>C",
"hgvs_p": "p.Phe257Ser",
"transcript": "ENST00000258428.8",
"protein_id": "ENSP00000258428.3",
"transcript_support_level": 1,
"aa_start": 257,
"aa_end": null,
"aa_length": 1251,
"cds_start": 770,
"cds_end": null,
"cds_length": 3756,
"cdna_start": 981,
"cdna_end": null,
"cdna_length": 4731,
"mane_select": "NM_016316.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.770T>C",
"hgvs_p": "p.Phe257Ser",
"transcript": "ENST00000393445.7",
"protein_id": "ENSP00000377091.3",
"transcript_support_level": 1,
"aa_start": 257,
"aa_end": null,
"aa_length": 1250,
"cds_start": 770,
"cds_end": null,
"cds_length": 3753,
"cdna_start": 937,
"cdna_end": null,
"cdna_length": 4686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.770T>C",
"hgvs_p": "p.Phe257Ser",
"transcript": "NM_001321454.2",
"protein_id": "NP_001308383.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 1287,
"cds_start": 770,
"cds_end": null,
"cds_length": 3864,
"cdna_start": 981,
"cdna_end": null,
"cdna_length": 4839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.770T>C",
"hgvs_p": "p.Phe257Ser",
"transcript": "NM_001037872.3",
"protein_id": "NP_001032961.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 1250,
"cds_start": 770,
"cds_end": null,
"cds_length": 3753,
"cdna_start": 981,
"cdna_end": null,
"cdna_length": 4728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.560T>C",
"hgvs_p": "p.Phe187Ser",
"transcript": "NM_001321455.2",
"protein_id": "NP_001308384.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 1180,
"cds_start": 560,
"cds_end": null,
"cds_length": 3543,
"cdna_start": 1138,
"cdna_end": null,
"cdna_length": 4885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.1094T>C",
"hgvs_p": "p.Phe365Ser",
"transcript": "XM_017004310.2",
"protein_id": "XP_016859799.2",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 1395,
"cds_start": 1094,
"cds_end": null,
"cds_length": 4188,
"cdna_start": 10509,
"cdna_end": null,
"cdna_length": 14367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.1094T>C",
"hgvs_p": "p.Phe365Ser",
"transcript": "XM_047444717.1",
"protein_id": "XP_047300673.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 1394,
"cds_start": 1094,
"cds_end": null,
"cds_length": 4185,
"cdna_start": 10510,
"cdna_end": null,
"cdna_length": 14365,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.1094T>C",
"hgvs_p": "p.Phe365Ser",
"transcript": "XM_047444718.1",
"protein_id": "XP_047300674.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 1359,
"cds_start": 1094,
"cds_end": null,
"cds_length": 4080,
"cdna_start": 10506,
"cdna_end": null,
"cdna_length": 14256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.1094T>C",
"hgvs_p": "p.Phe365Ser",
"transcript": "XM_017004313.2",
"protein_id": "XP_016859802.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 1358,
"cds_start": 1094,
"cds_end": null,
"cds_length": 4077,
"cdna_start": 10507,
"cdna_end": null,
"cdna_length": 14254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.800T>C",
"hgvs_p": "p.Phe267Ser",
"transcript": "XM_017004309.3",
"protein_id": "XP_016859798.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 1297,
"cds_start": 800,
"cds_end": null,
"cds_length": 3894,
"cdna_start": 8022,
"cdna_end": null,
"cdna_length": 11880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.770T>C",
"hgvs_p": "p.Phe257Ser",
"transcript": "XM_017004311.2",
"protein_id": "XP_016859800.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 1287,
"cds_start": 770,
"cds_end": null,
"cds_length": 3864,
"cdna_start": 878,
"cdna_end": null,
"cdna_length": 4736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.770T>C",
"hgvs_p": "p.Phe257Ser",
"transcript": "XM_017004312.3",
"protein_id": "XP_016859801.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 1286,
"cds_start": 770,
"cds_end": null,
"cds_length": 3861,
"cdna_start": 981,
"cdna_end": null,
"cdna_length": 4836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.770T>C",
"hgvs_p": "p.Phe257Ser",
"transcript": "XM_047444719.1",
"protein_id": "XP_047300675.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 1286,
"cds_start": 770,
"cds_end": null,
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"cdna_start": 864,
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"cdna_length": 4719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.800T>C",
"hgvs_p": "p.Phe267Ser",
"transcript": "XM_047444720.1",
"protein_id": "XP_047300676.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 1261,
"cds_start": 800,
"cds_end": null,
"cds_length": 3786,
"cdna_start": 8019,
"cdna_end": null,
"cdna_length": 11769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.770T>C",
"hgvs_p": "p.Phe257Ser",
"transcript": "XM_047444721.1",
"protein_id": "XP_047300677.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 1251,
"cds_start": 770,
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"cdna_start": 869,
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"cdna_length": 4619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.770T>C",
"hgvs_p": "p.Phe257Ser",
"transcript": "XM_047444723.1",
"protein_id": "XP_047300679.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 1250,
"cds_start": 770,
"cds_end": null,
"cds_length": 3753,
"cdna_start": 873,
"cdna_end": null,
"cdna_length": 4620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.560T>C",
"hgvs_p": "p.Phe187Ser",
"transcript": "XM_047444724.1",
"protein_id": "XP_047300680.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 1217,
"cds_start": 560,
"cds_end": null,
"cds_length": 3654,
"cdna_start": 845,
"cdna_end": null,
"cdna_length": 4703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.1094T>C",
"hgvs_p": "p.Phe365Ser",
"transcript": "XM_047444725.1",
"protein_id": "XP_047300681.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 670,
"cds_start": 1094,
"cds_end": null,
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"cdna_start": 10519,
"cdna_end": 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": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "n.*717T>C",
"hgvs_p": null,
"transcript": "ENST00000413697.5",
"protein_id": "ENSP00000416274.1",
"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,
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"cdna_length": 4727,
"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": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "n.725T>C",
"hgvs_p": null,
"transcript": "ENST00000465835.5",
"protein_id": null,
"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": 3172,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "n.882T>C",
"hgvs_p": null,
"transcript": "ENST00000473819.1",
"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": 1352,
"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": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "n.981T>C",
"hgvs_p": null,
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}
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}