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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: 5-134143082-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=134143082&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 134143082,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000342854.10",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "C",
"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": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.1008G>T",
"hgvs_p": "p.Trp336Cys",
"transcript": "NM_003202.5",
"protein_id": "NP_003193.2",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 384,
"cds_start": 1008,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 1234,
"cdna_end": null,
"cdna_length": 3288,
"mane_select": "ENST00000342854.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": true,
"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": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.1008G>T",
"hgvs_p": "p.Trp336Cys",
"transcript": "ENST00000342854.10",
"protein_id": "ENSP00000340347.5",
"transcript_support_level": 1,
"aa_start": 336,
"aa_end": null,
"aa_length": 384,
"cds_start": 1008,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 1234,
"cdna_end": null,
"cdna_length": 3288,
"mane_select": "NM_003202.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.663G>T",
"hgvs_p": "p.Trp221Cys",
"transcript": "ENST00000395023.5",
"protein_id": "ENSP00000378469.1",
"transcript_support_level": 1,
"aa_start": 221,
"aa_end": null,
"aa_length": 269,
"cds_start": 663,
"cds_end": null,
"cds_length": 810,
"cdna_start": 742,
"cdna_end": null,
"cdna_length": 2815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.663G>T",
"hgvs_p": "p.Trp221Cys",
"transcript": "ENST00000518915.5",
"protein_id": "ENSP00000430179.1",
"transcript_support_level": 1,
"aa_start": 221,
"aa_end": null,
"aa_length": 269,
"cds_start": 663,
"cds_end": null,
"cds_length": 810,
"cdna_start": 742,
"cdna_end": null,
"cdna_length": 1254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.663G>T",
"hgvs_p": "p.Trp221Cys",
"transcript": "ENST00000378560.8",
"protein_id": "ENSP00000367822.4",
"transcript_support_level": 1,
"aa_start": 221,
"aa_end": null,
"aa_length": 268,
"cds_start": 663,
"cds_end": null,
"cds_length": 807,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 2929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.1008G>T",
"hgvs_p": "p.Trp336Cys",
"transcript": "ENST00000395029.5",
"protein_id": "ENSP00000378472.1",
"transcript_support_level": 5,
"aa_start": 336,
"aa_end": null,
"aa_length": 481,
"cds_start": 1008,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 1203,
"cdna_end": null,
"cdna_length": 3330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"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": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.1101G>T",
"hgvs_p": "p.Trp367Cys",
"transcript": "NM_001346425.2",
"protein_id": "NP_001333354.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 415,
"cds_start": 1101,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 1327,
"cdna_end": null,
"cdna_length": 3381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"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": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.756G>T",
"hgvs_p": "p.Trp252Cys",
"transcript": "ENST00000522375.6",
"protein_id": "ENSP00000427870.2",
"transcript_support_level": 4,
"aa_start": 252,
"aa_end": null,
"aa_length": 300,
"cds_start": 756,
"cds_end": null,
"cds_length": 903,
"cdna_start": 853,
"cdna_end": null,
"cdna_length": 2840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"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": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.756G>T",
"hgvs_p": "p.Trp252Cys",
"transcript": "NM_001346450.2",
"protein_id": "NP_001333379.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 281,
"cds_start": 756,
"cds_end": null,
"cds_length": 846,
"cdna_start": 847,
"cdna_end": null,
"cdna_length": 2924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.663G>T",
"hgvs_p": "p.Trp221Cys",
"transcript": "NM_001134851.4",
"protein_id": "NP_001128323.2",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 269,
"cds_start": 663,
"cds_end": null,
"cds_length": 810,
"cdna_start": 754,
"cdna_end": null,
"cdna_length": 3291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.663G>T",
"hgvs_p": "p.Trp221Cys",
"transcript": "NM_201632.5",
"protein_id": "NP_963963.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 269,
"cds_start": 663,
"cds_end": null,
"cds_length": 810,
"cdna_start": 754,
"cdna_end": null,
"cdna_length": 2808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.663G>T",
"hgvs_p": "p.Trp221Cys",
"transcript": "NM_213648.5",
"protein_id": "NP_998813.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 269,
"cds_start": 663,
"cds_end": null,
"cds_length": 810,
"cdna_start": 988,
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"cdna_length": 3042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.663G>T",
"hgvs_p": "p.Trp221Cys",
"transcript": "ENST00000520958.5",
"protein_id": "ENSP00000429547.1",
"transcript_support_level": 2,
"aa_start": 221,
"aa_end": null,
"aa_length": 269,
"cds_start": 663,
"cds_end": null,
"cds_length": 810,
"cdna_start": 991,
"cdna_end": null,
"cdna_length": 1408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.663G>T",
"hgvs_p": "p.Trp221Cys",
"transcript": "NM_201634.5",
"protein_id": "NP_963965.1",
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"aa_start": 221,
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"cdna_start": 754,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "W",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.588G>T",
"hgvs_p": "p.Trp196Cys",
"transcript": "NM_001366502.2",
"protein_id": "NP_001353431.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 244,
"cds_start": 588,
"cds_end": null,
"cds_length": 735,
"cdna_start": 706,
"cdna_end": null,
"cdna_length": 2760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.372G>T",
"hgvs_p": "p.Trp124Cys",
"transcript": "ENST00000517855.5",
"protein_id": "ENSP00000429178.1",
"transcript_support_level": 5,
"aa_start": 124,
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"aa_length": 203,
"cds_start": 372,
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"cdna_start": 373,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.342G>T",
"hgvs_p": "p.Trp114Cys",
"transcript": "ENST00000517799.5",
"protein_id": "ENSP00000427968.1",
"transcript_support_level": 5,
"aa_start": 114,
"aa_end": null,
"aa_length": 147,
"cds_start": 342,
"cds_end": null,
"cds_length": 444,
"cdna_start": 342,
"cdna_end": null,
"cdna_length": 570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"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": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.180G>T",
"hgvs_p": "p.Trp60Cys",
"transcript": "ENST00000520699.1",
"protein_id": "ENSP00000429935.1",
"transcript_support_level": 2,
"aa_start": 60,
"aa_end": null,
"aa_length": 104,
"cds_start": 180,
"cds_end": null,
"cds_length": 315,
"cdna_start": 182,
"cdna_end": null,
"cdna_length": 459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
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"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": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.1101G>T",
"hgvs_p": "p.Trp367Cys",
"transcript": "XM_006714678.4",
"protein_id": "XP_006714741.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
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"cds_start": 1101,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"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": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.1008G>T",
"hgvs_p": "p.Trp336Cys",
"transcript": "XM_006714679.4",
"protein_id": "XP_006714742.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 429,
"cds_start": 1008,
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"cdna_start": 1234,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"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": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.1002G>T",
"hgvs_p": "p.Trp334Cys",
"transcript": "XM_047417635.1",
"protein_id": "XP_047273591.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 427,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 6895,
"cdna_end": null,
"cdna_length": 10376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.1101G>T",
"hgvs_p": "p.Trp367Cys",
"transcript": "XM_011543604.3",
"protein_id": "XP_011541906.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 416,
"cds_start": 1101,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1327,
"cdna_end": null,
"cdna_length": 1901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.1101G>T",
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