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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: 20-63889210-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=63889210&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 63889210,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_199360.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.497C>T",
"hgvs_p": "p.Ser166Leu",
"transcript": "NM_003288.4",
"protein_id": "NP_003279.2",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 206,
"cds_start": 497,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000346249.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003288.4"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.497C>T",
"hgvs_p": "p.Ser166Leu",
"transcript": "ENST00000346249.9",
"protein_id": "ENSP00000343547.4",
"transcript_support_level": 1,
"aa_start": 166,
"aa_end": null,
"aa_length": 206,
"cds_start": 497,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003288.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346249.9"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.539C>T",
"hgvs_p": "p.Ser180Leu",
"transcript": "ENST00000352482.8",
"protein_id": "ENSP00000344647.4",
"transcript_support_level": 1,
"aa_start": 180,
"aa_end": null,
"aa_length": 220,
"cds_start": 539,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352482.8"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.437C>T",
"hgvs_p": "p.Ser146Leu",
"transcript": "ENST00000348257.9",
"protein_id": "ENSP00000343554.5",
"transcript_support_level": 1,
"aa_start": 146,
"aa_end": null,
"aa_length": 186,
"cds_start": 437,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348257.9"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.761C>T",
"hgvs_p": "p.Ser254Leu",
"transcript": "ENST00000941625.1",
"protein_id": "ENSP00000611684.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 294,
"cds_start": 761,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941625.1"
},
{
"aa_ref": "S",
"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": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.566C>T",
"hgvs_p": "p.Ser189Leu",
"transcript": "NM_199360.3",
"protein_id": "NP_955392.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 229,
"cds_start": 566,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199360.3"
},
{
"aa_ref": "S",
"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": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.566C>T",
"hgvs_p": "p.Ser189Leu",
"transcript": "ENST00000217121.9",
"protein_id": "ENSP00000217121.5",
"transcript_support_level": 2,
"aa_start": 189,
"aa_end": null,
"aa_length": 229,
"cds_start": 566,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000217121.9"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Ser182Leu",
"transcript": "ENST00000879324.1",
"protein_id": "ENSP00000549383.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 222,
"cds_start": 545,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879324.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.542C>T",
"hgvs_p": "p.Ser181Leu",
"transcript": "ENST00000938339.1",
"protein_id": "ENSP00000608398.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 221,
"cds_start": 542,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938339.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.539C>T",
"hgvs_p": "p.Ser180Leu",
"transcript": "NM_199362.3",
"protein_id": "NP_955394.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 220,
"cds_start": 539,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199362.3"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.512C>T",
"hgvs_p": "p.Ser171Leu",
"transcript": "ENST00000879322.1",
"protein_id": "ENSP00000549381.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 211,
"cds_start": 512,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879322.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.509C>T",
"hgvs_p": "p.Ser170Leu",
"transcript": "ENST00000941624.1",
"protein_id": "ENSP00000611683.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 210,
"cds_start": 509,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941624.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Ser169Leu",
"transcript": "NM_199361.3",
"protein_id": "NP_955393.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 209,
"cds_start": 506,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199361.3"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Ser169Leu",
"transcript": "ENST00000351424.8",
"protein_id": "ENSP00000340006.4",
"transcript_support_level": 2,
"aa_start": 169,
"aa_end": null,
"aa_length": 209,
"cds_start": 506,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000351424.8"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.497C>T",
"hgvs_p": "p.Ser166Leu",
"transcript": "ENST00000938341.1",
"protein_id": "ENSP00000608400.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 204,
"cds_start": 497,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938341.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.482C>T",
"hgvs_p": "p.Ser161Leu",
"transcript": "ENST00000938343.1",
"protein_id": "ENSP00000608402.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 201,
"cds_start": 482,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938343.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.479C>T",
"hgvs_p": "p.Ser160Leu",
"transcript": "NM_199363.3",
"protein_id": "NP_955395.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 200,
"cds_start": 479,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199363.3"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.479C>T",
"hgvs_p": "p.Ser160Leu",
"transcript": "ENST00000358548.4",
"protein_id": "ENSP00000351350.4",
"transcript_support_level": 2,
"aa_start": 160,
"aa_end": null,
"aa_length": 200,
"cds_start": 479,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358548.4"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.437C>T",
"hgvs_p": "p.Ser146Leu",
"transcript": "ENST00000938344.1",
"protein_id": "ENSP00000608403.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 198,
"cds_start": 437,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938344.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.437C>T",
"hgvs_p": "p.Ser146Leu",
"transcript": "NM_199359.3",
"protein_id": "NP_955391.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 186,
"cds_start": 437,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199359.3"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.437C>T",
"hgvs_p": "p.Ser146Leu",
"transcript": "ENST00000938340.1",
"protein_id": "ENSP00000608399.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 184,
"cds_start": 437,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938340.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.428C>T",
"hgvs_p": "p.Ser143Leu",
"transcript": "ENST00000941623.1",
"protein_id": "ENSP00000611682.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 183,
"cds_start": 428,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941623.1"
},
{
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{
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"BP4"
],
"verdict": "Uncertain_significance",
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"effects": [
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{
"score": 1,
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"BP4"
],
"verdict": "Uncertain_significance",
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"effects": [
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],
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}