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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: 1-156477106-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=156477106&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 156477106,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005920.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2D",
"gene_hgnc_id": 6997,
"hgvs_c": "c.761C>A",
"hgvs_p": "p.Pro254Gln",
"transcript": "NM_005920.4",
"protein_id": "NP_005911.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 521,
"cds_start": 761,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000348159.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005920.4"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2D",
"gene_hgnc_id": 6997,
"hgvs_c": "c.761C>A",
"hgvs_p": "p.Pro254Gln",
"transcript": "ENST00000348159.9",
"protein_id": "ENSP00000271555.5",
"transcript_support_level": 1,
"aa_start": 254,
"aa_end": null,
"aa_length": 521,
"cds_start": 761,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005920.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348159.9"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"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": "MEF2D",
"gene_hgnc_id": 6997,
"hgvs_c": "c.761C>A",
"hgvs_p": "p.Pro254Gln",
"transcript": "ENST00000360595.7",
"protein_id": "ENSP00000353803.3",
"transcript_support_level": 1,
"aa_start": 254,
"aa_end": null,
"aa_length": 514,
"cds_start": 761,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360595.7"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2D",
"gene_hgnc_id": 6997,
"hgvs_c": "c.761C>A",
"hgvs_p": "p.Pro254Gln",
"transcript": "ENST00000875426.1",
"protein_id": "ENSP00000545485.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 521,
"cds_start": 761,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875426.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2D",
"gene_hgnc_id": 6997,
"hgvs_c": "c.761C>A",
"hgvs_p": "p.Pro254Gln",
"transcript": "ENST00000970810.1",
"protein_id": "ENSP00000640870.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 521,
"cds_start": 761,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970810.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2D",
"gene_hgnc_id": 6997,
"hgvs_c": "c.761C>A",
"hgvs_p": "p.Pro254Gln",
"transcript": "ENST00000970817.1",
"protein_id": "ENSP00000640876.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 521,
"cds_start": 761,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970817.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2D",
"gene_hgnc_id": 6997,
"hgvs_c": "c.761C>A",
"hgvs_p": "p.Pro254Gln",
"transcript": "ENST00000970818.1",
"protein_id": "ENSP00000640877.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 521,
"cds_start": 761,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970818.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2D",
"gene_hgnc_id": 6997,
"hgvs_c": "c.761C>A",
"hgvs_p": "p.Pro254Gln",
"transcript": "ENST00000970821.1",
"protein_id": "ENSP00000640880.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 521,
"cds_start": 761,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970821.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2D",
"gene_hgnc_id": 6997,
"hgvs_c": "c.761C>A",
"hgvs_p": "p.Pro254Gln",
"transcript": "ENST00000970824.1",
"protein_id": "ENSP00000640883.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 521,
"cds_start": 761,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970824.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2D",
"gene_hgnc_id": 6997,
"hgvs_c": "c.758C>A",
"hgvs_p": "p.Pro253Gln",
"transcript": "ENST00000970792.1",
"protein_id": "ENSP00000640851.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 520,
"cds_start": 758,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970792.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2D",
"gene_hgnc_id": 6997,
"hgvs_c": "c.758C>A",
"hgvs_p": "p.Pro253Gln",
"transcript": "ENST00000970793.1",
"protein_id": "ENSP00000640852.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 520,
"cds_start": 758,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970793.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2D",
"gene_hgnc_id": 6997,
"hgvs_c": "c.758C>A",
"hgvs_p": "p.Pro253Gln",
"transcript": "ENST00000970812.1",
"protein_id": "ENSP00000640871.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 520,
"cds_start": 758,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970812.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2D",
"gene_hgnc_id": 6997,
"hgvs_c": "c.758C>A",
"hgvs_p": "p.Pro253Gln",
"transcript": "ENST00000970814.1",
"protein_id": "ENSP00000640873.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 520,
"cds_start": 758,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970814.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2D",
"gene_hgnc_id": 6997,
"hgvs_c": "c.758C>A",
"hgvs_p": "p.Pro253Gln",
"transcript": "ENST00000970816.1",
"protein_id": "ENSP00000640875.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 520,
"cds_start": 758,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970816.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"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": "MEF2D",
"gene_hgnc_id": 6997,
"hgvs_c": "c.761C>A",
"hgvs_p": "p.Pro254Gln",
"transcript": "NM_001271629.2",
"protein_id": "NP_001258558.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 514,
"cds_start": 761,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271629.2"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"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": "MEF2D",
"gene_hgnc_id": 6997,
"hgvs_c": "c.761C>A",
"hgvs_p": "p.Pro254Gln",
"transcript": "ENST00000875425.1",
"protein_id": "ENSP00000545484.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 514,
"cds_start": 761,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875425.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"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": "MEF2D",
"gene_hgnc_id": 6997,
"hgvs_c": "c.761C>A",
"hgvs_p": "p.Pro254Gln",
"transcript": "ENST00000924773.1",
"protein_id": "ENSP00000594832.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 514,
"cds_start": 761,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924773.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"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": "MEF2D",
"gene_hgnc_id": 6997,
"hgvs_c": "c.761C>A",
"hgvs_p": "p.Pro254Gln",
"transcript": "ENST00000924774.1",
"protein_id": "ENSP00000594833.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 514,
"cds_start": 761,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924774.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2D",
"gene_hgnc_id": 6997,
"hgvs_c": "c.761C>A",
"hgvs_p": "p.Pro254Gln",
"transcript": "ENST00000924777.1",
"protein_id": "ENSP00000594836.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 514,
"cds_start": 761,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924777.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2D",
"gene_hgnc_id": 6997,
"hgvs_c": "c.761C>A",
"hgvs_p": "p.Pro254Gln",
"transcript": "ENST00000924778.1",
"protein_id": "ENSP00000594837.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 514,
"cds_start": 761,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924778.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"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": "MEF2D",
"gene_hgnc_id": 6997,
"hgvs_c": "c.761C>A",
"hgvs_p": "p.Pro254Gln",
"transcript": "ENST00000924779.1",
"protein_id": "ENSP00000594838.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 514,
"cds_start": 761,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924779.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2D",
"gene_hgnc_id": 6997,
"hgvs_c": "c.761C>A",
"hgvs_p": "p.Pro254Gln",
"transcript": "ENST00000924780.1",
"protein_id": "ENSP00000594839.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 514,
"cds_start": 761,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005920.4",
"gene_symbol": "MEF2D",
"hgnc_id": 6997,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.761C>A",
"hgvs_p": "p.Pro254Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}