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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: 5-134115992-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=134115992&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 134115992,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001346425.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.400C>T",
"hgvs_p": "p.Pro134Ser",
"transcript": "NM_003202.5",
"protein_id": "NP_003193.2",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 384,
"cds_start": 400,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000342854.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003202.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.400C>T",
"hgvs_p": "p.Pro134Ser",
"transcript": "ENST00000342854.10",
"protein_id": "ENSP00000340347.5",
"transcript_support_level": 1,
"aa_start": 134,
"aa_end": null,
"aa_length": 384,
"cds_start": 400,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003202.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342854.10"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.Pro19Ser",
"transcript": "ENST00000395023.5",
"protein_id": "ENSP00000378469.1",
"transcript_support_level": 1,
"aa_start": 19,
"aa_end": null,
"aa_length": 269,
"cds_start": 55,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395023.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.Pro19Ser",
"transcript": "ENST00000518915.5",
"protein_id": "ENSP00000430179.1",
"transcript_support_level": 1,
"aa_start": 19,
"aa_end": null,
"aa_length": 269,
"cds_start": 55,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518915.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.Pro19Ser",
"transcript": "ENST00000378560.8",
"protein_id": "ENSP00000367822.4",
"transcript_support_level": 1,
"aa_start": 19,
"aa_end": null,
"aa_length": 268,
"cds_start": 55,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378560.8"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.400C>T",
"hgvs_p": "p.Pro134Ser",
"transcript": "ENST00000395029.5",
"protein_id": "ENSP00000378472.1",
"transcript_support_level": 5,
"aa_start": 134,
"aa_end": null,
"aa_length": 481,
"cds_start": 400,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395029.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.400C>T",
"hgvs_p": "p.Pro134Ser",
"transcript": "NM_001346425.2",
"protein_id": "NP_001333354.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 415,
"cds_start": 400,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346425.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.400C>T",
"hgvs_p": "p.Pro134Ser",
"transcript": "ENST00000851078.1",
"protein_id": "ENSP00000521137.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 365,
"cds_start": 400,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851078.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.Pro19Ser",
"transcript": "ENST00000522375.6",
"protein_id": "ENSP00000427870.2",
"transcript_support_level": 4,
"aa_start": 19,
"aa_end": null,
"aa_length": 300,
"cds_start": 55,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522375.6"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.Pro19Ser",
"transcript": "NM_001346450.2",
"protein_id": "NP_001333379.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 281,
"cds_start": 55,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346450.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.Pro19Ser",
"transcript": "NM_001134851.4",
"protein_id": "NP_001128323.2",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 269,
"cds_start": 55,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001134851.4"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.Pro19Ser",
"transcript": "NM_201632.5",
"protein_id": "NP_963963.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 269,
"cds_start": 55,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201632.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.Pro19Ser",
"transcript": "NM_213648.5",
"protein_id": "NP_998813.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 269,
"cds_start": 55,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_213648.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.Pro19Ser",
"transcript": "ENST00000520958.5",
"protein_id": "ENSP00000429547.1",
"transcript_support_level": 2,
"aa_start": 19,
"aa_end": null,
"aa_length": 269,
"cds_start": 55,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520958.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.Pro19Ser",
"transcript": "NM_201634.5",
"protein_id": "NP_963965.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 268,
"cds_start": 55,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201634.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.Pro19Ser",
"transcript": "ENST00000517851.5",
"protein_id": "ENSP00000429946.1",
"transcript_support_level": 4,
"aa_start": 19,
"aa_end": null,
"aa_length": 166,
"cds_start": 55,
"cds_end": null,
"cds_length": 503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000517851.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.Pro19Ser",
"transcript": "ENST00000521639.5",
"protein_id": "ENSP00000427782.1",
"transcript_support_level": 4,
"aa_start": 19,
"aa_end": null,
"aa_length": 146,
"cds_start": 55,
"cds_end": null,
"cds_length": 442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521639.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.Pro19Ser",
"transcript": "ENST00000518887.5",
"protein_id": "ENSP00000430617.1",
"transcript_support_level": 2,
"aa_start": 19,
"aa_end": null,
"aa_length": 121,
"cds_start": 55,
"cds_end": null,
"cds_length": 368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518887.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.400C>T",
"hgvs_p": "p.Pro134Ser",
"transcript": "XM_006714678.4",
"protein_id": "XP_006714741.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 460,
"cds_start": 400,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006714678.4"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.400C>T",
"hgvs_p": "p.Pro134Ser",
"transcript": "XM_006714679.4",
"protein_id": "XP_006714742.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 429,
"cds_start": 400,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006714679.4"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.394C>T",
"hgvs_p": "p.Pro132Ser",
"transcript": "XM_047417635.1",
"protein_id": "XP_047273591.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 427,
"cds_start": 394,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417635.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.400C>T",
"hgvs_p": "p.Pro134Ser",
"transcript": "XM_011543604.3",
"protein_id": "XP_011541906.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 416,
"cds_start": 400,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543604.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
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"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}