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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: 9-125559808-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=125559808&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 125559808,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001006617.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPKAP1",
"gene_hgnc_id": 18752,
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Asp225Asn",
"transcript": "NM_001006617.3",
"protein_id": "NP_001006618.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 522,
"cds_start": 673,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265960.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001006617.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPKAP1",
"gene_hgnc_id": 18752,
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Asp225Asn",
"transcript": "ENST00000265960.8",
"protein_id": "ENSP00000265960.3",
"transcript_support_level": 1,
"aa_start": 225,
"aa_end": null,
"aa_length": 522,
"cds_start": 673,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001006617.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265960.8"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPKAP1",
"gene_hgnc_id": 18752,
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Asp225Asn",
"transcript": "ENST00000350766.7",
"protein_id": "ENSP00000265961.5",
"transcript_support_level": 1,
"aa_start": 225,
"aa_end": null,
"aa_length": 486,
"cds_start": 673,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000350766.7"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPKAP1",
"gene_hgnc_id": 18752,
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Asp225Asn",
"transcript": "ENST00000373511.6",
"protein_id": "ENSP00000362610.2",
"transcript_support_level": 1,
"aa_start": 225,
"aa_end": null,
"aa_length": 475,
"cds_start": 673,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373511.6"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPKAP1",
"gene_hgnc_id": 18752,
"hgvs_c": "c.97G>A",
"hgvs_p": "p.Asp33Asn",
"transcript": "ENST00000373503.7",
"protein_id": "ENSP00000362602.3",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 330,
"cds_start": 97,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373503.7"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPKAP1",
"gene_hgnc_id": 18752,
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Asp225Asn",
"transcript": "ENST00000394060.7",
"protein_id": "ENSP00000377624.3",
"transcript_support_level": 1,
"aa_start": 225,
"aa_end": null,
"aa_length": 323,
"cds_start": 673,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394060.7"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPKAP1",
"gene_hgnc_id": 18752,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Asp126Asn",
"transcript": "ENST00000468896.1",
"protein_id": "ENSP00000417766.1",
"transcript_support_level": 1,
"aa_start": 126,
"aa_end": null,
"aa_length": 132,
"cds_start": 376,
"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": "ENST00000468896.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPKAP1",
"gene_hgnc_id": 18752,
"hgvs_c": "n.273G>A",
"hgvs_p": null,
"transcript": "ENST00000473837.5",
"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": "ENST00000473837.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPKAP1",
"gene_hgnc_id": 18752,
"hgvs_c": "n.97G>A",
"hgvs_p": null,
"transcript": "ENST00000497932.5",
"protein_id": "ENSP00000418607.1",
"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": "ENST00000497932.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPKAP1",
"gene_hgnc_id": 18752,
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Asp225Asn",
"transcript": "ENST00000960917.1",
"protein_id": "ENSP00000630976.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 534,
"cds_start": 673,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960917.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPKAP1",
"gene_hgnc_id": 18752,
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Asp225Asn",
"transcript": "ENST00000373498.5",
"protein_id": "ENSP00000362597.1",
"transcript_support_level": 5,
"aa_start": 225,
"aa_end": null,
"aa_length": 522,
"cds_start": 673,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373498.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPKAP1",
"gene_hgnc_id": 18752,
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Asp225Asn",
"transcript": "ENST00000960914.1",
"protein_id": "ENSP00000630973.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 522,
"cds_start": 673,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960914.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPKAP1",
"gene_hgnc_id": 18752,
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Asp225Asn",
"transcript": "NM_024117.4",
"protein_id": "NP_077022.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 486,
"cds_start": 673,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024117.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPKAP1",
"gene_hgnc_id": 18752,
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Asp225Asn",
"transcript": "ENST00000898457.1",
"protein_id": "ENSP00000568516.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 486,
"cds_start": 673,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898457.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPKAP1",
"gene_hgnc_id": 18752,
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Asp225Asn",
"transcript": "ENST00000898458.1",
"protein_id": "ENSP00000568517.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 486,
"cds_start": 673,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898458.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPKAP1",
"gene_hgnc_id": 18752,
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Asp225Asn",
"transcript": "ENST00000915245.1",
"protein_id": "ENSP00000585304.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 486,
"cds_start": 673,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915245.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPKAP1",
"gene_hgnc_id": 18752,
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Asp225Asn",
"transcript": "NM_001006619.2",
"protein_id": "NP_001006620.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 475,
"cds_start": 673,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001006619.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPKAP1",
"gene_hgnc_id": 18752,
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Asp225Asn",
"transcript": "ENST00000898453.1",
"protein_id": "ENSP00000568512.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 475,
"cds_start": 673,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898453.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPKAP1",
"gene_hgnc_id": 18752,
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Asp225Asn",
"transcript": "ENST00000960913.1",
"protein_id": "ENSP00000630972.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 475,
"cds_start": 673,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960913.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPKAP1",
"gene_hgnc_id": 18752,
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Asp225Asn",
"transcript": "ENST00000960916.1",
"protein_id": "ENSP00000630975.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 475,
"cds_start": 673,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960916.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPKAP1",
"gene_hgnc_id": 18752,
"hgvs_c": "c.583G>A",
"hgvs_p": "p.Asp195Asn",
"transcript": "ENST00000898455.1",
"protein_id": "ENSP00000568514.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 456,
"cds_start": 583,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898455.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
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{
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],
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"clinvar_classification": "Uncertain significance",
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}