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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: 3-180603199-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=180603199&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 180603199,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_133462.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "TTC14",
"gene_hgnc_id": 24697,
"hgvs_c": "c.362G>A",
"hgvs_p": "p.Arg121Gln",
"transcript": "NM_133462.4",
"protein_id": "NP_597719.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 770,
"cds_start": 362,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000296015.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_133462.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"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": "TTC14",
"gene_hgnc_id": 24697,
"hgvs_c": "c.362G>A",
"hgvs_p": "p.Arg121Gln",
"transcript": "ENST00000296015.9",
"protein_id": "ENSP00000296015.4",
"transcript_support_level": 1,
"aa_start": 121,
"aa_end": null,
"aa_length": 770,
"cds_start": 362,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_133462.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296015.9"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC14",
"gene_hgnc_id": 24697,
"hgvs_c": "c.362G>A",
"hgvs_p": "p.Arg121Gln",
"transcript": "ENST00000382584.8",
"protein_id": "ENSP00000372027.4",
"transcript_support_level": 1,
"aa_start": 121,
"aa_end": null,
"aa_length": 653,
"cds_start": 362,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382584.8"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "TTC14",
"gene_hgnc_id": 24697,
"hgvs_c": "c.362G>A",
"hgvs_p": "p.Arg121Gln",
"transcript": "ENST00000412756.6",
"protein_id": "ENSP00000413743.2",
"transcript_support_level": 1,
"aa_start": 121,
"aa_end": null,
"aa_length": 439,
"cds_start": 362,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412756.6"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC14",
"gene_hgnc_id": 24697,
"hgvs_c": "n.362G>A",
"hgvs_p": null,
"transcript": "ENST00000465065.5",
"protein_id": "ENSP00000420732.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000465065.5"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC14",
"gene_hgnc_id": 24697,
"hgvs_c": "n.362G>A",
"hgvs_p": null,
"transcript": "ENST00000470669.5",
"protein_id": "ENSP00000419562.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000470669.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "TTC14",
"gene_hgnc_id": 24697,
"hgvs_c": "c.362G>A",
"hgvs_p": "p.Arg121Gln",
"transcript": "ENST00000862624.1",
"protein_id": "ENSP00000532683.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 769,
"cds_start": 362,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862624.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "TTC14",
"gene_hgnc_id": 24697,
"hgvs_c": "c.362G>A",
"hgvs_p": "p.Arg121Gln",
"transcript": "ENST00000947441.1",
"protein_id": "ENSP00000617500.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 760,
"cds_start": 362,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947441.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "TTC14",
"gene_hgnc_id": 24697,
"hgvs_c": "c.362G>A",
"hgvs_p": "p.Arg121Gln",
"transcript": "ENST00000862626.1",
"protein_id": "ENSP00000532685.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 731,
"cds_start": 362,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862626.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "TTC14",
"gene_hgnc_id": 24697,
"hgvs_c": "c.362G>A",
"hgvs_p": "p.Arg121Gln",
"transcript": "ENST00000947442.1",
"protein_id": "ENSP00000617501.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 730,
"cds_start": 362,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947442.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "TTC14",
"gene_hgnc_id": 24697,
"hgvs_c": "c.362G>A",
"hgvs_p": "p.Arg121Gln",
"transcript": "ENST00000947443.1",
"protein_id": "ENSP00000617502.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 730,
"cds_start": 362,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947443.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "TTC14",
"gene_hgnc_id": 24697,
"hgvs_c": "c.362G>A",
"hgvs_p": "p.Arg121Gln",
"transcript": "ENST00000862625.1",
"protein_id": "ENSP00000532684.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 718,
"cds_start": 362,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862625.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "TTC14",
"gene_hgnc_id": 24697,
"hgvs_c": "c.362G>A",
"hgvs_p": "p.Arg121Gln",
"transcript": "ENST00000947444.1",
"protein_id": "ENSP00000617503.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 679,
"cds_start": 362,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947444.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC14",
"gene_hgnc_id": 24697,
"hgvs_c": "c.362G>A",
"hgvs_p": "p.Arg121Gln",
"transcript": "NM_001288582.2",
"protein_id": "NP_001275511.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 653,
"cds_start": 362,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288582.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "TTC14",
"gene_hgnc_id": 24697,
"hgvs_c": "c.362G>A",
"hgvs_p": "p.Arg121Gln",
"transcript": "NM_001042601.3",
"protein_id": "NP_001036066.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 439,
"cds_start": 362,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042601.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "TTC14",
"gene_hgnc_id": 24697,
"hgvs_c": "c.62G>A",
"hgvs_p": "p.Arg21Gln",
"transcript": "ENST00000492617.5",
"protein_id": "ENSP00000418126.1",
"transcript_support_level": 3,
"aa_start": 21,
"aa_end": null,
"aa_length": 184,
"cds_start": 62,
"cds_end": null,
"cds_length": 557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000492617.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC14",
"gene_hgnc_id": 24697,
"hgvs_c": "c.362G>A",
"hgvs_p": "p.Arg121Gln",
"transcript": "ENST00000491380.5",
"protein_id": "ENSP00000420652.1",
"transcript_support_level": 3,
"aa_start": 121,
"aa_end": null,
"aa_length": 175,
"cds_start": 362,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000491380.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "TTC14",
"gene_hgnc_id": 24697,
"hgvs_c": "c.62G>A",
"hgvs_p": "p.Arg21Gln",
"transcript": "ENST00000495660.1",
"protein_id": "ENSP00000417415.1",
"transcript_support_level": 3,
"aa_start": 21,
"aa_end": null,
"aa_length": 132,
"cds_start": 62,
"cds_end": null,
"cds_length": 401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000495660.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "TTC14",
"gene_hgnc_id": 24697,
"hgvs_c": "c.362G>A",
"hgvs_p": "p.Arg121Gln",
"transcript": "XM_017005739.3",
"protein_id": "XP_016861228.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 718,
"cds_start": 362,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005739.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "TTC14",
"gene_hgnc_id": 24697,
"hgvs_c": "c.362G>A",
"hgvs_p": "p.Arg121Gln",
"transcript": "XM_017005740.2",
"protein_id": "XP_016861229.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 434,
"cds_start": 362,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005740.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "TTC14",
"gene_hgnc_id": 24697,
"hgvs_c": "c.362G>A",
"hgvs_p": "p.Arg121Gln",
"transcript": "XM_047447485.1",
"protein_id": "XP_047303441.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 382,
"cds_start": 362,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447485.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CCDC39",
"gene_hgnc_id": 25244,
"hgvs_c": "c.*46-208C>T",
"hgvs_p": null,
"transcript": "ENST00000473854.5",
"protein_id": "ENSP00000418482.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 101,
"cds_start": null,
"cds_end": null,
"cds_length": 306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000473854.5"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC14",
"gene_hgnc_id": 24697,
"hgvs_c": "n.362G>A",
"hgvs_p": null,
"transcript": "ENST00000462895.1",
"protein_id": "ENSP00000420278.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000462895.1"
}
],
"gene_symbol": "TTC14",
"gene_hgnc_id": 24697,
"dbsnp": "rs759235167",
"frequency_reference_population": 0.000006578601,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000065786,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.28009265661239624,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.212,
"revel_prediction": "Benign",
"alphamissense_score": 0.1736,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.284,
"phylop100way_prediction": "Uncertain_significance",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_133462.4",
"gene_symbol": "TTC14",
"hgnc_id": 24697,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.362G>A",
"hgvs_p": "p.Arg121Gln"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000473854.5",
"gene_symbol": "CCDC39",
"hgnc_id": 25244,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.*46-208C>T",
"hgvs_p": null
}
],
"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
}