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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: 3-185447913-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=185447913&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 185447913,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004721.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K13",
"gene_hgnc_id": 6852,
"hgvs_c": "c.976C>T",
"hgvs_p": "p.Arg326Trp",
"transcript": "NM_004721.5",
"protein_id": "NP_004712.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 966,
"cds_start": 976,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265026.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004721.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K13",
"gene_hgnc_id": 6852,
"hgvs_c": "c.976C>T",
"hgvs_p": "p.Arg326Trp",
"transcript": "ENST00000265026.8",
"protein_id": "ENSP00000265026.3",
"transcript_support_level": 1,
"aa_start": 326,
"aa_end": null,
"aa_length": 966,
"cds_start": 976,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004721.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265026.8"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K13",
"gene_hgnc_id": 6852,
"hgvs_c": "c.976C>T",
"hgvs_p": "p.Arg326Trp",
"transcript": "ENST00000424227.5",
"protein_id": "ENSP00000399910.1",
"transcript_support_level": 1,
"aa_start": 326,
"aa_end": null,
"aa_length": 966,
"cds_start": 976,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424227.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K13",
"gene_hgnc_id": 6852,
"hgvs_c": "n.*479C>T",
"hgvs_p": null,
"transcript": "ENST00000433092.5",
"protein_id": "ENSP00000389798.1",
"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": "ENST00000433092.5"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K13",
"gene_hgnc_id": 6852,
"hgvs_c": "n.*117C>T",
"hgvs_p": null,
"transcript": "ENST00000438053.5",
"protein_id": "ENSP00000403561.1",
"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": "ENST00000438053.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K13",
"gene_hgnc_id": 6852,
"hgvs_c": "n.*479C>T",
"hgvs_p": null,
"transcript": "ENST00000433092.5",
"protein_id": "ENSP00000389798.1",
"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": "ENST00000433092.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K13",
"gene_hgnc_id": 6852,
"hgvs_c": "n.*117C>T",
"hgvs_p": null,
"transcript": "ENST00000438053.5",
"protein_id": "ENSP00000403561.1",
"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": "ENST00000438053.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K13",
"gene_hgnc_id": 6852,
"hgvs_c": "c.976C>T",
"hgvs_p": "p.Arg326Trp",
"transcript": "NM_001242314.2",
"protein_id": "NP_001229243.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 966,
"cds_start": 976,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242314.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K13",
"gene_hgnc_id": 6852,
"hgvs_c": "c.976C>T",
"hgvs_p": "p.Arg326Trp",
"transcript": "ENST00000901846.1",
"protein_id": "ENSP00000571905.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 966,
"cds_start": 976,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901846.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K13",
"gene_hgnc_id": 6852,
"hgvs_c": "c.976C>T",
"hgvs_p": "p.Arg326Trp",
"transcript": "ENST00000901848.1",
"protein_id": "ENSP00000571907.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 966,
"cds_start": 976,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901848.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K13",
"gene_hgnc_id": 6852,
"hgvs_c": "c.976C>T",
"hgvs_p": "p.Arg326Trp",
"transcript": "ENST00000901849.1",
"protein_id": "ENSP00000571908.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 966,
"cds_start": 976,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901849.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K13",
"gene_hgnc_id": 6852,
"hgvs_c": "c.883C>T",
"hgvs_p": "p.Arg295Trp",
"transcript": "ENST00000901847.1",
"protein_id": "ENSP00000571906.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 935,
"cds_start": 883,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901847.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K13",
"gene_hgnc_id": 6852,
"hgvs_c": "c.682C>T",
"hgvs_p": "p.Arg228Trp",
"transcript": "ENST00000950641.1",
"protein_id": "ENSP00000620700.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 868,
"cds_start": 682,
"cds_end": null,
"cds_length": 2607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950641.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K13",
"gene_hgnc_id": 6852,
"hgvs_c": "c.544C>T",
"hgvs_p": "p.Arg182Trp",
"transcript": "ENST00000443863.5",
"protein_id": "ENSP00000409325.1",
"transcript_support_level": 2,
"aa_start": 182,
"aa_end": null,
"aa_length": 822,
"cds_start": 544,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443863.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K13",
"gene_hgnc_id": 6852,
"hgvs_c": "c.355C>T",
"hgvs_p": "p.Arg119Trp",
"transcript": "NM_001242317.2",
"protein_id": "NP_001229246.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 759,
"cds_start": 355,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242317.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K13",
"gene_hgnc_id": 6852,
"hgvs_c": "c.355C>T",
"hgvs_p": "p.Arg119Trp",
"transcript": "ENST00000446828.5",
"protein_id": "ENSP00000411483.1",
"transcript_support_level": 2,
"aa_start": 119,
"aa_end": null,
"aa_length": 759,
"cds_start": 355,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446828.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "MAP3K13",
"gene_hgnc_id": 6852,
"hgvs_c": "c.211C>T",
"hgvs_p": "p.Arg71Trp",
"transcript": "ENST00000420577.1",
"protein_id": "ENSP00000415712.1",
"transcript_support_level": 2,
"aa_start": 71,
"aa_end": null,
"aa_length": 245,
"cds_start": 211,
"cds_end": null,
"cds_length": 740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420577.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K13",
"gene_hgnc_id": 6852,
"hgvs_c": "c.976C>T",
"hgvs_p": "p.Arg326Trp",
"transcript": "XM_011513310.3",
"protein_id": "XP_011511612.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 966,
"cds_start": 976,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513310.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K13",
"gene_hgnc_id": 6852,
"hgvs_c": "c.976C>T",
"hgvs_p": "p.Arg326Trp",
"transcript": "XM_017007456.2",
"protein_id": "XP_016862945.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 966,
"cds_start": 976,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007456.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K13",
"gene_hgnc_id": 6852,
"hgvs_c": "c.976C>T",
"hgvs_p": "p.Arg326Trp",
"transcript": "XM_047449193.1",
"protein_id": "XP_047305149.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 966,
"cds_start": 976,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449193.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K13",
"gene_hgnc_id": 6852,
"hgvs_c": "c.529C>T",
"hgvs_p": "p.Arg177Trp",
"transcript": "XM_017007457.2",
"protein_id": "XP_016862946.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 817,
"cds_start": 529,
"cds_end": null,
"cds_length": 2454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007457.2"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K13",
"gene_hgnc_id": 6852,
"hgvs_c": "n.*207C>T",
"hgvs_p": null,
"transcript": "ENST00000439882.1",
"protein_id": "ENSP00000407361.1",
"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": "ENST00000439882.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K13",
"gene_hgnc_id": 6852,
"hgvs_c": "n.*207C>T",
"hgvs_p": null,
"transcript": "ENST00000439882.1",
"protein_id": "ENSP00000407361.1",
"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": "ENST00000439882.1"
}
],
"gene_symbol": "MAP3K13",
"gene_hgnc_id": 6852,
"dbsnp": "rs1185555747",
"frequency_reference_population": 0.0000020552252,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205523,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8880024552345276,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.852,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.999,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.34,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.074,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004721.5",
"gene_symbol": "MAP3K13",
"hgnc_id": 6852,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.976C>T",
"hgvs_p": "p.Arg326Trp"
}
],
"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
}