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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: 11-113323371-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=113323371&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 113323371,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_017868.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC12",
"gene_hgnc_id": 23700,
"hgvs_c": "c.142A>G",
"hgvs_p": "p.Met48Val",
"transcript": "NM_017868.4",
"protein_id": "NP_060338.3",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 705,
"cds_start": 142,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 2256,
"mane_select": "ENST00000529221.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC12",
"gene_hgnc_id": 23700,
"hgvs_c": "c.142A>G",
"hgvs_p": "p.Met48Val",
"transcript": "ENST00000529221.6",
"protein_id": "ENSP00000433757.1",
"transcript_support_level": 2,
"aa_start": 48,
"aa_end": null,
"aa_length": 705,
"cds_start": 142,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 2256,
"mane_select": "NM_017868.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC12",
"gene_hgnc_id": 23700,
"hgvs_c": "c.142A>G",
"hgvs_p": "p.Met48Val",
"transcript": "ENST00000314756.7",
"protein_id": "ENSP00000315160.3",
"transcript_support_level": 1,
"aa_start": 48,
"aa_end": null,
"aa_length": 732,
"cds_start": 142,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 161,
"cdna_end": null,
"cdna_length": 2509,
"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": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC12",
"gene_hgnc_id": 23700,
"hgvs_c": "n.142A>G",
"hgvs_p": null,
"transcript": "ENST00000494714.5",
"protein_id": "ENSP00000435291.1",
"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": 2520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC12",
"gene_hgnc_id": 23700,
"hgvs_c": "c.142A>G",
"hgvs_p": "p.Met48Val",
"transcript": "NM_001318533.2",
"protein_id": "NP_001305462.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 711,
"cds_start": 142,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 2274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC12",
"gene_hgnc_id": 23700,
"hgvs_c": "c.142A>G",
"hgvs_p": "p.Met48Val",
"transcript": "ENST00000483239.6",
"protein_id": "ENSP00000419652.2",
"transcript_support_level": 5,
"aa_start": 48,
"aa_end": null,
"aa_length": 711,
"cds_start": 142,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 159,
"cdna_end": null,
"cdna_length": 2240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC12",
"gene_hgnc_id": 23700,
"hgvs_c": "c.67A>G",
"hgvs_p": "p.Met23Val",
"transcript": "NM_001378063.1",
"protein_id": "NP_001364992.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 706,
"cds_start": 67,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 120,
"cdna_end": null,
"cdna_length": 2261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC12",
"gene_hgnc_id": 23700,
"hgvs_c": "c.142A>G",
"hgvs_p": "p.Met48Val",
"transcript": "NM_001378064.1",
"protein_id": "NP_001364993.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 705,
"cds_start": 142,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 1273,
"cdna_end": null,
"cdna_length": 3336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC12",
"gene_hgnc_id": 23700,
"hgvs_c": "c.142A>G",
"hgvs_p": "p.Met48Val",
"transcript": "NM_001378065.1",
"protein_id": "NP_001364994.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 705,
"cds_start": 142,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 741,
"cdna_end": null,
"cdna_length": 2804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC12",
"gene_hgnc_id": 23700,
"hgvs_c": "c.67A>G",
"hgvs_p": "p.Met23Val",
"transcript": "NM_001352037.2",
"protein_id": "NP_001338966.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 680,
"cds_start": 67,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 120,
"cdna_end": null,
"cdna_length": 2183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC12",
"gene_hgnc_id": 23700,
"hgvs_c": "c.142A>G",
"hgvs_p": "p.Met48Val",
"transcript": "ENST00000393020.5",
"protein_id": "ENSP00000376743.1",
"transcript_support_level": 5,
"aa_start": 48,
"aa_end": null,
"aa_length": 669,
"cds_start": 142,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 547,
"cdna_end": null,
"cdna_length": 2541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC12",
"gene_hgnc_id": 23700,
"hgvs_c": "c.142A>G",
"hgvs_p": "p.Met48Val",
"transcript": "ENST00000525965.5",
"protein_id": "ENSP00000435308.1",
"transcript_support_level": 4,
"aa_start": 48,
"aa_end": null,
"aa_length": 253,
"cds_start": 142,
"cds_end": null,
"cds_length": 764,
"cdna_start": 185,
"cdna_end": null,
"cdna_length": 807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC12",
"gene_hgnc_id": 23700,
"hgvs_c": "c.142A>G",
"hgvs_p": "p.Met48Val",
"transcript": "ENST00000442859.5",
"protein_id": "ENSP00000400039.1",
"transcript_support_level": 5,
"aa_start": 48,
"aa_end": null,
"aa_length": 201,
"cds_start": 142,
"cds_end": null,
"cds_length": 606,
"cdna_start": 300,
"cdna_end": null,
"cdna_length": 764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC12",
"gene_hgnc_id": 23700,
"hgvs_c": "c.142A>G",
"hgvs_p": "p.Met48Val",
"transcript": "ENST00000529850.5",
"protein_id": "ENSP00000431806.1",
"transcript_support_level": 5,
"aa_start": 48,
"aa_end": null,
"aa_length": 180,
"cds_start": 142,
"cds_end": null,
"cds_length": 543,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC12",
"gene_hgnc_id": 23700,
"hgvs_c": "c.67A>G",
"hgvs_p": "p.Met23Val",
"transcript": "ENST00000531164.5",
"protein_id": "ENSP00000433916.1",
"transcript_support_level": 5,
"aa_start": 23,
"aa_end": null,
"aa_length": 170,
"cds_start": 67,
"cds_end": null,
"cds_length": 513,
"cdna_start": 120,
"cdna_end": null,
"cdna_length": 566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC12",
"gene_hgnc_id": 23700,
"hgvs_c": "c.142A>G",
"hgvs_p": "p.Met48Val",
"transcript": "ENST00000455306.5",
"protein_id": "ENSP00000402004.1",
"transcript_support_level": 4,
"aa_start": 48,
"aa_end": null,
"aa_length": 166,
"cds_start": 142,
"cds_end": null,
"cds_length": 502,
"cdna_start": 470,
"cdna_end": null,
"cdna_length": 830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC12",
"gene_hgnc_id": 23700,
"hgvs_c": "c.142A>G",
"hgvs_p": "p.Met48Val",
"transcript": "ENST00000429951.5",
"protein_id": "ENSP00000413335.1",
"transcript_support_level": 5,
"aa_start": 48,
"aa_end": null,
"aa_length": 106,
"cds_start": 142,
"cds_end": null,
"cds_length": 322,
"cdna_start": 489,
"cdna_end": null,
"cdna_length": 669,
"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": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC12",
"gene_hgnc_id": 23700,
"hgvs_c": "n.142A>G",
"hgvs_p": null,
"transcript": "ENST00000464224.5",
"protein_id": "ENSP00000437030.1",
"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": 2985,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC12",
"gene_hgnc_id": 23700,
"hgvs_c": "n.294A>G",
"hgvs_p": null,
"transcript": "ENST00000489064.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 591,
"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": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC12",
"gene_hgnc_id": 23700,
"hgvs_c": "n.159A>G",
"hgvs_p": null,
"transcript": "ENST00000527781.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 519,
"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": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC12",
"gene_hgnc_id": 23700,
"hgvs_c": "n.193A>G",
"hgvs_p": null,
"transcript": "NR_147891.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 2544,
"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": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC12",
"gene_hgnc_id": 23700,
"hgvs_c": "n.710A>G",
"hgvs_p": null,
"transcript": "NR_165392.1",
"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": 2940,
"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": "TTC12",
"gene_hgnc_id": 23700,
"hgvs_c": "c.54+7056A>G",
"hgvs_p": null,
"transcript": "ENST00000524580.6",
"protein_id": "ENSP00000436677.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 88,
"cds_start": -4,
"cds_end": null,
"cds_length": 269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TTC12",
"gene_hgnc_id": 23700,
"hgvs_c": "n.109+7056A>G",
"hgvs_p": null,
"transcript": "NR_165393.1",
"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": 2402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TTC12",
"gene_hgnc_id": 23700,
"dbsnp": "rs148853643",
"frequency_reference_population": 0.00047719857,
"hom_count_reference_population": 7,
"allele_count_reference_population": 770,
"gnomad_exomes_af": 0.000244989,
"gnomad_genomes_af": 0.00270529,
"gnomad_exomes_ac": 358,
"gnomad_genomes_ac": 412,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 4,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.005276620388031006,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.055,
"revel_prediction": "Benign",
"alphamissense_score": 0.0999,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.039,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_017868.4",
"gene_symbol": "TTC12",
"hgnc_id": 23700,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.142A>G",
"hgvs_p": "p.Met48Val"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}