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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: 17-45477899-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=45477899&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 45477899,
"ref": "C",
"alt": "T",
"effect": "splice_donor_variant,intron_variant",
"transcript": "NM_014798.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PLEKHM1",
"gene_hgnc_id": 29017,
"hgvs_c": "c.296+1G>A",
"hgvs_p": null,
"transcript": "NM_014798.3",
"protein_id": "NP_055613.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1056,
"cds_start": null,
"cds_end": null,
"cds_length": 3171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000430334.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014798.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PLEKHM1",
"gene_hgnc_id": 29017,
"hgvs_c": "c.296+1G>A",
"hgvs_p": null,
"transcript": "ENST00000430334.8",
"protein_id": "ENSP00000389913.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1056,
"cds_start": null,
"cds_end": null,
"cds_length": 3171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014798.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430334.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PLEKHM1",
"gene_hgnc_id": 29017,
"hgvs_c": "n.296+1G>A",
"hgvs_p": null,
"transcript": "ENST00000581448.5",
"protein_id": "ENSP00000462160.1",
"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": "ENST00000581448.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PLEKHM1",
"gene_hgnc_id": 29017,
"hgvs_c": "c.296+1G>A",
"hgvs_p": null,
"transcript": "ENST00000446609.7",
"protein_id": "ENSP00000394344.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1056,
"cds_start": null,
"cds_end": null,
"cds_length": 3171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446609.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PLEKHM1",
"gene_hgnc_id": 29017,
"hgvs_c": "c.296+1G>A",
"hgvs_p": null,
"transcript": "ENST00000958647.1",
"protein_id": "ENSP00000628706.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1056,
"cds_start": null,
"cds_end": null,
"cds_length": 3171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958647.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PLEKHM1",
"gene_hgnc_id": 29017,
"hgvs_c": "c.296+1G>A",
"hgvs_p": null,
"transcript": "ENST00000958646.1",
"protein_id": "ENSP00000628705.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1041,
"cds_start": null,
"cds_end": null,
"cds_length": 3126,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958646.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PLEKHM1",
"gene_hgnc_id": 29017,
"hgvs_c": "c.296+1G>A",
"hgvs_p": null,
"transcript": "ENST00000861476.1",
"protein_id": "ENSP00000531535.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1035,
"cds_start": null,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861476.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PLEKHM1",
"gene_hgnc_id": 29017,
"hgvs_c": "c.296+1G>A",
"hgvs_p": null,
"transcript": "NM_001352825.2",
"protein_id": "NP_001339754.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 853,
"cds_start": null,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352825.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PLEKHM1",
"gene_hgnc_id": 29017,
"hgvs_c": "c.296+1G>A",
"hgvs_p": null,
"transcript": "ENST00000700125.1",
"protein_id": "ENSP00000514814.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 853,
"cds_start": null,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700125.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PLEKHM1",
"gene_hgnc_id": 29017,
"hgvs_c": "c.296+1G>A",
"hgvs_p": null,
"transcript": "ENST00000700128.1",
"protein_id": "ENSP00000514816.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 458,
"cds_start": null,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700128.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PLEKHM1",
"gene_hgnc_id": 29017,
"hgvs_c": "c.296+1G>A",
"hgvs_p": null,
"transcript": "ENST00000700131.1",
"protein_id": "ENSP00000514820.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 306,
"cds_start": null,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700131.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PLEKHM1",
"gene_hgnc_id": 29017,
"hgvs_c": "c.95+202G>A",
"hgvs_p": null,
"transcript": "ENST00000589780.5",
"protein_id": "ENSP00000467356.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 151,
"cds_start": null,
"cds_end": null,
"cds_length": 456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589780.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLEKHM1",
"gene_hgnc_id": 29017,
"hgvs_c": "c.-94-2173G>A",
"hgvs_p": null,
"transcript": "ENST00000584420.1",
"protein_id": "ENSP00000462065.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 139,
"cds_start": null,
"cds_end": null,
"cds_length": 422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000584420.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PLEKHM1",
"gene_hgnc_id": 29017,
"hgvs_c": "c.296+1G>A",
"hgvs_p": null,
"transcript": "XM_017025451.2",
"protein_id": "XP_016880940.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1056,
"cds_start": null,
"cds_end": null,
"cds_length": 3171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025451.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PLEKHM1",
"gene_hgnc_id": 29017,
"hgvs_c": "c.296+1G>A",
"hgvs_p": null,
"transcript": "XM_047437188.1",
"protein_id": "XP_047293144.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1056,
"cds_start": null,
"cds_end": null,
"cds_length": 3171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437188.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PLEKHM1",
"gene_hgnc_id": 29017,
"hgvs_c": "c.144-2173G>A",
"hgvs_p": null,
"transcript": "XM_011525525.1",
"protein_id": "XP_011523827.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1005,
"cds_start": null,
"cds_end": null,
"cds_length": 3018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525525.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PLEKHM1",
"gene_hgnc_id": 29017,
"hgvs_c": "c.296+1G>A",
"hgvs_p": null,
"transcript": "XM_047437189.1",
"protein_id": "XP_047293145.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 994,
"cds_start": null,
"cds_end": null,
"cds_length": 2985,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437189.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PLEKHM1",
"gene_hgnc_id": 29017,
"hgvs_c": "c.296+1G>A",
"hgvs_p": null,
"transcript": "XM_047437190.1",
"protein_id": "XP_047293146.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 989,
"cds_start": null,
"cds_end": null,
"cds_length": 2970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437190.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PLEKHM1",
"gene_hgnc_id": 29017,
"hgvs_c": "c.30-2173G>A",
"hgvs_p": null,
"transcript": "XM_017025452.2",
"protein_id": "XP_016880941.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 967,
"cds_start": null,
"cds_end": null,
"cds_length": 2904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025452.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PLEKHM1",
"gene_hgnc_id": 29017,
"hgvs_c": "c.144-2173G>A",
"hgvs_p": null,
"transcript": "XM_047437191.1",
"protein_id": "XP_047293147.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 943,
"cds_start": null,
"cds_end": null,
"cds_length": 2832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437191.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHM1",
"gene_hgnc_id": 29017,
"hgvs_c": "n.297G>A",
"hgvs_p": null,
"transcript": "ENST00000586084.1",
"protein_id": "ENSP00000464766.1",
"transcript_support_level": 4,
"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": "ENST00000586084.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHM1",
"gene_hgnc_id": 29017,
"hgvs_c": "n.297G>A",
"hgvs_p": null,
"transcript": "ENST00000700123.1",
"protein_id": "ENSP00000514812.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Autosomal recessive osteopetrosis 6",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}