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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: 7-100105098-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=100105098&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 100105098,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000359593.9",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4M1",
"gene_hgnc_id": 574,
"hgvs_c": "c.727G>A",
"hgvs_p": "p.Gly243Ser",
"transcript": "NM_004722.4",
"protein_id": "NP_004713.2",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 453,
"cds_start": 727,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 799,
"cdna_end": null,
"cdna_length": 3591,
"mane_select": "ENST00000359593.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4M1",
"gene_hgnc_id": 574,
"hgvs_c": "c.727G>A",
"hgvs_p": "p.Gly243Ser",
"transcript": "ENST00000359593.9",
"protein_id": "ENSP00000352603.4",
"transcript_support_level": 1,
"aa_start": 243,
"aa_end": null,
"aa_length": 453,
"cds_start": 727,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 799,
"cdna_end": null,
"cdna_length": 3591,
"mane_select": "NM_004722.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4M1",
"gene_hgnc_id": 574,
"hgvs_c": "c.727G>A",
"hgvs_p": "p.Gly243Ser",
"transcript": "ENST00000421755.5",
"protein_id": "ENSP00000412185.1",
"transcript_support_level": 1,
"aa_start": 243,
"aa_end": null,
"aa_length": 453,
"cds_start": 727,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 778,
"cdna_end": null,
"cdna_length": 1572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4M1",
"gene_hgnc_id": 574,
"hgvs_c": "c.748G>A",
"hgvs_p": "p.Gly250Ser",
"transcript": "NM_001363671.2",
"protein_id": "NP_001350600.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 460,
"cds_start": 748,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 820,
"cdna_end": null,
"cdna_length": 3612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4M1",
"gene_hgnc_id": 574,
"hgvs_c": "c.748G>A",
"hgvs_p": "p.Gly250Ser",
"transcript": "NM_001438824.1",
"protein_id": "NP_001425753.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 460,
"cds_start": 748,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 1013,
"cdna_end": null,
"cdna_length": 3805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4M1",
"gene_hgnc_id": 574,
"hgvs_c": "c.748G>A",
"hgvs_p": "p.Gly250Ser",
"transcript": "ENST00000429084.5",
"protein_id": "ENSP00000403663.1",
"transcript_support_level": 5,
"aa_start": 250,
"aa_end": null,
"aa_length": 460,
"cds_start": 748,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 906,
"cdna_end": null,
"cdna_length": 1836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4M1",
"gene_hgnc_id": 574,
"hgvs_c": "c.727G>A",
"hgvs_p": "p.Gly243Ser",
"transcript": "NM_001438825.1",
"protein_id": "NP_001425754.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 453,
"cds_start": 727,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1437,
"cdna_end": null,
"cdna_length": 4229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4M1",
"gene_hgnc_id": 574,
"hgvs_c": "c.727G>A",
"hgvs_p": "p.Gly243Ser",
"transcript": "NM_001438826.1",
"protein_id": "NP_001425755.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 453,
"cds_start": 727,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 992,
"cdna_end": null,
"cdna_length": 3784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4M1",
"gene_hgnc_id": 574,
"hgvs_c": "c.727G>A",
"hgvs_p": "p.Gly243Ser",
"transcript": "ENST00000713591.1",
"protein_id": "ENSP00000518888.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 453,
"cds_start": 727,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 888,
"cdna_end": null,
"cdna_length": 3680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4M1",
"gene_hgnc_id": 574,
"hgvs_c": "c.727G>A",
"hgvs_p": "p.Gly243Ser",
"transcript": "ENST00000713791.1",
"protein_id": "ENSP00000519097.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 453,
"cds_start": 727,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1373,
"cdna_end": null,
"cdna_length": 5020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4M1",
"gene_hgnc_id": 574,
"hgvs_c": "c.718G>A",
"hgvs_p": "p.Gly240Ser",
"transcript": "ENST00000713792.1",
"protein_id": "ENSP00000519098.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 450,
"cds_start": 718,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 914,
"cdna_end": null,
"cdna_length": 1785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4M1",
"gene_hgnc_id": 574,
"hgvs_c": "c.748G>A",
"hgvs_p": "p.Gly250Ser",
"transcript": "NM_001438827.1",
"protein_id": "NP_001425756.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 419,
"cds_start": 748,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 820,
"cdna_end": null,
"cdna_length": 3489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4M1",
"gene_hgnc_id": 574,
"hgvs_c": "c.727G>A",
"hgvs_p": "p.Gly243Ser",
"transcript": "NM_001438828.1",
"protein_id": "NP_001425757.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 412,
"cds_start": 727,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 799,
"cdna_end": null,
"cdna_length": 3468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4M1",
"gene_hgnc_id": 574,
"hgvs_c": "c.727G>A",
"hgvs_p": "p.Gly243Ser",
"transcript": "ENST00000445295.2",
"protein_id": "ENSP00000393723.2",
"transcript_support_level": 3,
"aa_start": 243,
"aa_end": null,
"aa_length": 412,
"cds_start": 727,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 734,
"cdna_end": null,
"cdna_length": 1508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4M1",
"gene_hgnc_id": 574,
"hgvs_c": "c.727G>A",
"hgvs_p": "p.Gly243Ser",
"transcript": "ENST00000450807.6",
"protein_id": "ENSP00000391585.2",
"transcript_support_level": 3,
"aa_start": 243,
"aa_end": null,
"aa_length": 408,
"cds_start": 727,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 847,
"cdna_end": null,
"cdna_length": 1412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4M1",
"gene_hgnc_id": 574,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Gly175Ser",
"transcript": "NM_001438829.1",
"protein_id": "NP_001425758.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 385,
"cds_start": 523,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 595,
"cdna_end": null,
"cdna_length": 3387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4M1",
"gene_hgnc_id": 574,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Gly175Ser",
"transcript": "ENST00000438383.6",
"protein_id": "ENSP00000401613.2",
"transcript_support_level": 5,
"aa_start": 175,
"aa_end": null,
"aa_length": 385,
"cds_start": 523,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 681,
"cdna_end": null,
"cdna_length": 2945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4M1",
"gene_hgnc_id": 574,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Gly175Ser",
"transcript": "NM_001438830.1",
"protein_id": "NP_001425759.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 344,
"cds_start": 523,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 595,
"cdna_end": null,
"cdna_length": 3264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4M1",
"gene_hgnc_id": 574,
"hgvs_c": "c.343G>A",
"hgvs_p": "p.Gly115Ser",
"transcript": "NM_001438831.1",
"protein_id": "NP_001425760.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 325,
"cds_start": 343,
"cds_end": null,
"cds_length": 978,
"cdna_start": 947,
"cdna_end": null,
"cdna_length": 3739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4M1",
"gene_hgnc_id": 574,
"hgvs_c": "c.343G>A",
"hgvs_p": "p.Gly115Ser",
"transcript": "NM_001438832.1",
"protein_id": "NP_001425761.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 325,
"cds_start": 343,
"cds_end": null,
"cds_length": 978,
"cdna_start": 874,
"cdna_end": null,
"cdna_length": 3666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4M1",
"gene_hgnc_id": 574,
"hgvs_c": "c.595G>A",
"hgvs_p": "p.Gly199Ser",
"transcript": "ENST00000439416.5",
"protein_id": "ENSP00000414286.1",
"transcript_support_level": 5,
"aa_start": 199,
"aa_end": null,
"aa_length": 264,
"cds_start": 595,
"cds_end": null,
"cds_length": 797,
"cdna_start": 719,
"cdna_end": null,
"cdna_length": 921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4M1",
"gene_hgnc_id": 574,
"hgvs_c": "c.748G>A",
"hgvs_p": "p.Gly250Ser",
"transcript": "XM_005250689.5",
"protein_id": "XP_005250746.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 460,
"cds_start": 748,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 847,
"cdna_end": null,
"cdna_length": 3639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"hgvs_c": "n.95-149C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}