← 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: 1-1354483-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=1354483&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 1354483,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001282585.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MXRA8",
"gene_hgnc_id": 7542,
"hgvs_c": "c.976G>T",
"hgvs_p": "p.Val326Phe",
"transcript": "NM_032348.4",
"protein_id": "NP_115724.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 442,
"cds_start": 976,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000309212.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032348.4"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MXRA8",
"gene_hgnc_id": 7542,
"hgvs_c": "c.976G>T",
"hgvs_p": "p.Val326Phe",
"transcript": "ENST00000309212.11",
"protein_id": "ENSP00000307887.6",
"transcript_support_level": 1,
"aa_start": 326,
"aa_end": null,
"aa_length": 442,
"cds_start": 976,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032348.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000309212.11"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MXRA8",
"gene_hgnc_id": 7542,
"hgvs_c": "c.673G>T",
"hgvs_p": "p.Val225Phe",
"transcript": "ENST00000342753.8",
"protein_id": "ENSP00000344998.4",
"transcript_support_level": 1,
"aa_start": 225,
"aa_end": null,
"aa_length": 341,
"cds_start": 673,
"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": "ENST00000342753.8"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MXRA8",
"gene_hgnc_id": 7542,
"hgvs_c": "c.1060G>T",
"hgvs_p": "p.Val354Phe",
"transcript": "ENST00000953650.1",
"protein_id": "ENSP00000623709.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 470,
"cds_start": 1060,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953650.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MXRA8",
"gene_hgnc_id": 7542,
"hgvs_c": "c.976G>T",
"hgvs_p": "p.Val326Phe",
"transcript": "NM_001282585.1",
"protein_id": "NP_001269514.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 450,
"cds_start": 976,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282585.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MXRA8",
"gene_hgnc_id": 7542,
"hgvs_c": "c.976G>T",
"hgvs_p": "p.Val326Phe",
"transcript": "ENST00000445648.5",
"protein_id": "ENSP00000399229.2",
"transcript_support_level": 2,
"aa_start": 326,
"aa_end": null,
"aa_length": 450,
"cds_start": 976,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445648.5"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MXRA8",
"gene_hgnc_id": 7542,
"hgvs_c": "c.976G>T",
"hgvs_p": "p.Val326Phe",
"transcript": "ENST00000897927.1",
"protein_id": "ENSP00000567986.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 448,
"cds_start": 976,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897927.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MXRA8",
"gene_hgnc_id": 7542,
"hgvs_c": "c.976G>T",
"hgvs_p": "p.Val326Phe",
"transcript": "NM_001282582.2",
"protein_id": "NP_001269511.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 442,
"cds_start": 976,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282582.2"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MXRA8",
"gene_hgnc_id": 7542,
"hgvs_c": "c.952G>T",
"hgvs_p": "p.Val318Phe",
"transcript": "ENST00000953649.1",
"protein_id": "ENSP00000623708.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 434,
"cds_start": 952,
"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": "ENST00000953649.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MXRA8",
"gene_hgnc_id": 7542,
"hgvs_c": "c.949G>T",
"hgvs_p": "p.Val317Phe",
"transcript": "NM_001282583.2",
"protein_id": "NP_001269512.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 433,
"cds_start": 949,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282583.2"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MXRA8",
"gene_hgnc_id": 7542,
"hgvs_c": "c.949G>T",
"hgvs_p": "p.Val317Phe",
"transcript": "ENST00000477278.3",
"protein_id": "ENSP00000436135.1",
"transcript_support_level": 5,
"aa_start": 317,
"aa_end": null,
"aa_length": 433,
"cds_start": 949,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000477278.3"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MXRA8",
"gene_hgnc_id": 7542,
"hgvs_c": "c.976G>T",
"hgvs_p": "p.Val326Phe",
"transcript": "ENST00000953651.1",
"protein_id": "ENSP00000623710.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 416,
"cds_start": 976,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953651.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MXRA8",
"gene_hgnc_id": 7542,
"hgvs_c": "c.673G>T",
"hgvs_p": "p.Val225Phe",
"transcript": "NM_001282584.2",
"protein_id": "NP_001269513.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 341,
"cds_start": 673,
"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_001282584.2"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MXRA8",
"gene_hgnc_id": 7542,
"hgvs_c": "c.976G>T",
"hgvs_p": "p.Val326Phe",
"transcript": "XM_017001516.3",
"protein_id": "XP_016857005.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 444,
"cds_start": 976,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001516.3"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MXRA8",
"gene_hgnc_id": 7542,
"hgvs_c": "c.673G>T",
"hgvs_p": "p.Val225Phe",
"transcript": "XM_017001517.2",
"protein_id": "XP_016857006.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 343,
"cds_start": 673,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001517.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "MXRA8",
"gene_hgnc_id": 7542,
"hgvs_c": "n.362G>T",
"hgvs_p": null,
"transcript": "ENST00000476718.1",
"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": "ENST00000476718.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000304860",
"gene_hgnc_id": null,
"hgvs_c": "n.172+6129C>A",
"hgvs_p": null,
"transcript": "ENST00000806656.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000806656.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000304860",
"gene_hgnc_id": null,
"hgvs_c": "n.237+6002C>A",
"hgvs_p": null,
"transcript": "ENST00000806657.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000806657.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000304860",
"gene_hgnc_id": null,
"hgvs_c": "n.193+5469C>A",
"hgvs_p": null,
"transcript": "ENST00000806658.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000806658.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000304860",
"gene_hgnc_id": null,
"hgvs_c": "n.177+5469C>A",
"hgvs_p": null,
"transcript": "ENST00000806659.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000806659.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MXRA8",
"gene_hgnc_id": 7542,
"hgvs_c": "n.-219G>T",
"hgvs_p": null,
"transcript": "ENST00000474033.5",
"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": "ENST00000474033.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MXRA8",
"gene_hgnc_id": 7542,
"hgvs_c": "n.-9G>T",
"hgvs_p": null,
"transcript": "ENST00000473097.5",
"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": "ENST00000473097.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MXRA8",
"gene_hgnc_id": 7542,
"hgvs_c": "n.-236G>T",
"hgvs_p": null,
"transcript": "ENST00000478517.5",
"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": "ENST00000478517.5"
}
],
"gene_symbol": "MXRA8",
"gene_hgnc_id": 7542,
"dbsnp": "rs141809370",
"frequency_reference_population": 0.00025740426,
"hom_count_reference_population": 3,
"allele_count_reference_population": 415,
"gnomad_exomes_af": 0.000243848,
"gnomad_genomes_af": 0.000387337,
"gnomad_exomes_ac": 356,
"gnomad_genomes_ac": 59,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.038724035024642944,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.177,
"revel_prediction": "Benign",
"alphamissense_score": 0.7115,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.029,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001282585.1",
"gene_symbol": "MXRA8",
"hgnc_id": 7542,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.976G>T",
"hgvs_p": "p.Val326Phe"
},
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000806656.1",
"gene_symbol": "ENSG00000304860",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.172+6129C>A",
"hgvs_p": null
}
],
"clinvar_disease": "MXRA8-related disorder",
"clinvar_classification": "Benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "MXRA8-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}