← Back to variant description
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: 16-3025804-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=3025804&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 3025804,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_024339.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC6",
"gene_hgnc_id": 28369,
"hgvs_c": "c.136G>A",
"hgvs_p": "p.Gly46Arg",
"transcript": "NM_024339.5",
"protein_id": "NP_077315.2",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 341,
"cds_start": 136,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000326266.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024339.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC6",
"gene_hgnc_id": 28369,
"hgvs_c": "c.136G>A",
"hgvs_p": "p.Gly46Arg",
"transcript": "ENST00000326266.13",
"protein_id": "ENSP00000326531.8",
"transcript_support_level": 1,
"aa_start": 46,
"aa_end": null,
"aa_length": 341,
"cds_start": 136,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024339.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000326266.13"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC6",
"gene_hgnc_id": 28369,
"hgvs_c": "c.64G>A",
"hgvs_p": "p.Gly22Arg",
"transcript": "ENST00000574549.5",
"protein_id": "ENSP00000458295.1",
"transcript_support_level": 1,
"aa_start": 22,
"aa_end": null,
"aa_length": 317,
"cds_start": 64,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000574549.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC6",
"gene_hgnc_id": 28369,
"hgvs_c": "n.420G>A",
"hgvs_p": null,
"transcript": "ENST00000571057.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000571057.5"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC6",
"gene_hgnc_id": 28369,
"hgvs_c": "n.432G>A",
"hgvs_p": null,
"transcript": "ENST00000574957.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000574957.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC6",
"gene_hgnc_id": 28369,
"hgvs_c": "c.136G>A",
"hgvs_p": "p.Gly46Arg",
"transcript": "ENST00000873903.1",
"protein_id": "ENSP00000543962.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 347,
"cds_start": 136,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873903.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC6",
"gene_hgnc_id": 28369,
"hgvs_c": "c.136G>A",
"hgvs_p": "p.Gly46Arg",
"transcript": "NM_001347704.2",
"protein_id": "NP_001334633.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 341,
"cds_start": 136,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347704.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC6",
"gene_hgnc_id": 28369,
"hgvs_c": "c.136G>A",
"hgvs_p": "p.Gly46Arg",
"transcript": "ENST00000915279.1",
"protein_id": "ENSP00000585338.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 341,
"cds_start": 136,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915279.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC6",
"gene_hgnc_id": 28369,
"hgvs_c": "c.136G>A",
"hgvs_p": "p.Gly46Arg",
"transcript": "ENST00000873907.1",
"protein_id": "ENSP00000543966.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 340,
"cds_start": 136,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873907.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC6",
"gene_hgnc_id": 28369,
"hgvs_c": "c.136G>A",
"hgvs_p": "p.Gly46Arg",
"transcript": "ENST00000915280.1",
"protein_id": "ENSP00000585339.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 340,
"cds_start": 136,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915280.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC6",
"gene_hgnc_id": 28369,
"hgvs_c": "c.136G>A",
"hgvs_p": "p.Gly46Arg",
"transcript": "ENST00000873905.1",
"protein_id": "ENSP00000543964.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 338,
"cds_start": 136,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873905.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC6",
"gene_hgnc_id": 28369,
"hgvs_c": "c.136G>A",
"hgvs_p": "p.Gly46Arg",
"transcript": "ENST00000873904.1",
"protein_id": "ENSP00000543963.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 332,
"cds_start": 136,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873904.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC6",
"gene_hgnc_id": 28369,
"hgvs_c": "c.64G>A",
"hgvs_p": "p.Gly22Arg",
"transcript": "NM_001347703.2",
"protein_id": "NP_001334632.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 317,
"cds_start": 64,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347703.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC6",
"gene_hgnc_id": 28369,
"hgvs_c": "c.64G>A",
"hgvs_p": "p.Gly22Arg",
"transcript": "ENST00000575576.5",
"protein_id": "ENSP00000460015.1",
"transcript_support_level": 5,
"aa_start": 22,
"aa_end": null,
"aa_length": 317,
"cds_start": 64,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000575576.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC6",
"gene_hgnc_id": 28369,
"hgvs_c": "c.136G>A",
"hgvs_p": "p.Gly46Arg",
"transcript": "ENST00000915281.1",
"protein_id": "ENSP00000585340.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 313,
"cds_start": 136,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915281.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC6",
"gene_hgnc_id": 28369,
"hgvs_c": "c.136G>A",
"hgvs_p": "p.Gly46Arg",
"transcript": "ENST00000915282.1",
"protein_id": "ENSP00000585341.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 310,
"cds_start": 136,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915282.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC6",
"gene_hgnc_id": 28369,
"hgvs_c": "c.136G>A",
"hgvs_p": "p.Gly46Arg",
"transcript": "ENST00000873906.1",
"protein_id": "ENSP00000543965.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 304,
"cds_start": 136,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873906.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC6",
"gene_hgnc_id": 28369,
"hgvs_c": "c.136G>A",
"hgvs_p": "p.Gly46Arg",
"transcript": "NM_001142350.3",
"protein_id": "NP_001135822.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 296,
"cds_start": 136,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142350.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC6",
"gene_hgnc_id": 28369,
"hgvs_c": "c.136G>A",
"hgvs_p": "p.Gly46Arg",
"transcript": "ENST00000253952.9",
"protein_id": "ENSP00000253952.9",
"transcript_support_level": 2,
"aa_start": 46,
"aa_end": null,
"aa_length": 296,
"cds_start": 136,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000253952.9"
},
{
"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": "THOC6",
"gene_hgnc_id": 28369,
"hgvs_c": "n.325G>A",
"hgvs_p": null,
"transcript": "ENST00000571046.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000571046.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC6",
"gene_hgnc_id": 28369,
"hgvs_c": "n.402G>A",
"hgvs_p": null,
"transcript": "ENST00000573704.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000573704.5"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC6",
"gene_hgnc_id": 28369,
"hgvs_c": "n.403G>A",
"hgvs_p": null,
"transcript": "ENST00000574498.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "retained_intron",
"feature": "ENST00000574498.5"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC6",
"gene_hgnc_id": 28369,
"hgvs_c": "n.436G>A",
"hgvs_p": null,
"transcript": "ENST00000576143.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "retained_intron",
"feature": "ENST00000576143.5"
}
],
"gene_symbol": "THOC6",
"gene_hgnc_id": 28369,
"dbsnp": "rs587777030",
"frequency_reference_population": 0.0000018586946,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000136811,
"gnomad_genomes_af": 0.00000657194,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8648694157600403,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.606,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9728,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.29,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.906,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PP3_Moderate,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_024339.5",
"gene_symbol": "THOC6",
"hgnc_id": 28369,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.136G>A",
"hgvs_p": "p.Gly46Arg"
}
],
"clinvar_disease": "THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1 O:1",
"phenotype_combined": "THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}