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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: 11-82997265-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=82997265&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 82997265,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014488.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB30",
"gene_hgnc_id": 9770,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Ala18Thr",
"transcript": "NM_001286060.2",
"protein_id": "NP_001272989.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 203,
"cds_start": 52,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000527633.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286060.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB30",
"gene_hgnc_id": 9770,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Ala18Thr",
"transcript": "ENST00000527633.6",
"protein_id": "ENSP00000435089.1",
"transcript_support_level": 1,
"aa_start": 18,
"aa_end": null,
"aa_length": 203,
"cds_start": 52,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001286060.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527633.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB30",
"gene_hgnc_id": 9770,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Ala18Thr",
"transcript": "ENST00000533486.5",
"protein_id": "ENSP00000435189.1",
"transcript_support_level": 1,
"aa_start": 18,
"aa_end": null,
"aa_length": 203,
"cds_start": 52,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533486.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB30",
"gene_hgnc_id": 9770,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Ala18Thr",
"transcript": "ENST00000534141.5",
"protein_id": "ENSP00000434974.1",
"transcript_support_level": 1,
"aa_start": 18,
"aa_end": null,
"aa_length": 164,
"cds_start": 52,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534141.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB30",
"gene_hgnc_id": 9770,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Ala18Thr",
"transcript": "ENST00000534301.5",
"protein_id": "ENSP00000432193.1",
"transcript_support_level": 1,
"aa_start": 18,
"aa_end": null,
"aa_length": 138,
"cds_start": 52,
"cds_end": null,
"cds_length": 418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534301.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB30",
"gene_hgnc_id": 9770,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Ala18Thr",
"transcript": "ENST00000525117.5",
"protein_id": "ENSP00000433243.1",
"transcript_support_level": 1,
"aa_start": 18,
"aa_end": null,
"aa_length": 94,
"cds_start": 52,
"cds_end": null,
"cds_length": 285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525117.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB30",
"gene_hgnc_id": 9770,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Ala18Thr",
"transcript": "NM_001286059.2",
"protein_id": "NP_001272988.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 203,
"cds_start": 52,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286059.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB30",
"gene_hgnc_id": 9770,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Ala18Thr",
"transcript": "NM_001286061.1",
"protein_id": "NP_001272990.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 203,
"cds_start": 52,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286061.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB30",
"gene_hgnc_id": 9770,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Ala18Thr",
"transcript": "NM_014488.5",
"protein_id": "NP_055303.2",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 203,
"cds_start": 52,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014488.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB30",
"gene_hgnc_id": 9770,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Ala18Thr",
"transcript": "ENST00000260056.6",
"protein_id": "ENSP00000260056.2",
"transcript_support_level": 2,
"aa_start": 18,
"aa_end": null,
"aa_length": 203,
"cds_start": 52,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000260056.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB30",
"gene_hgnc_id": 9770,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Ala18Thr",
"transcript": "ENST00000612684.4",
"protein_id": "ENSP00000478702.1",
"transcript_support_level": 3,
"aa_start": 18,
"aa_end": null,
"aa_length": 203,
"cds_start": 52,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000612684.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB30",
"gene_hgnc_id": 9770,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Ala18Thr",
"transcript": "ENST00000876635.1",
"protein_id": "ENSP00000546694.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 203,
"cds_start": 52,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876635.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB30",
"gene_hgnc_id": 9770,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Ala18Thr",
"transcript": "ENST00000876636.1",
"protein_id": "ENSP00000546695.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 203,
"cds_start": 52,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876636.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB30",
"gene_hgnc_id": 9770,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Ala18Thr",
"transcript": "ENST00000876637.1",
"protein_id": "ENSP00000546696.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 203,
"cds_start": 52,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876637.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB30",
"gene_hgnc_id": 9770,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Ala18Thr",
"transcript": "ENST00000876638.1",
"protein_id": "ENSP00000546697.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 203,
"cds_start": 52,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876638.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB30",
"gene_hgnc_id": 9770,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Ala18Thr",
"transcript": "ENST00000876639.1",
"protein_id": "ENSP00000546698.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 203,
"cds_start": 52,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876639.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB30",
"gene_hgnc_id": 9770,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Ala18Thr",
"transcript": "ENST00000876640.1",
"protein_id": "ENSP00000546699.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 203,
"cds_start": 52,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876640.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB30",
"gene_hgnc_id": 9770,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Ala18Thr",
"transcript": "ENST00000876641.1",
"protein_id": "ENSP00000546700.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 203,
"cds_start": 52,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876641.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB30",
"gene_hgnc_id": 9770,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Ala18Thr",
"transcript": "ENST00000876642.1",
"protein_id": "ENSP00000546701.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 203,
"cds_start": 52,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876642.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB30",
"gene_hgnc_id": 9770,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Ala18Thr",
"transcript": "ENST00000921437.1",
"protein_id": "ENSP00000591496.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 203,
"cds_start": 52,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921437.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB30",
"gene_hgnc_id": 9770,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Ala18Thr",
"transcript": "ENST00000947973.1",
"protein_id": "ENSP00000618032.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 203,
"cds_start": 52,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947973.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB30",
"gene_hgnc_id": 9770,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Ala18Thr",
"transcript": "ENST00000947974.1",
"protein_id": "ENSP00000618033.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 203,
"cds_start": 52,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947974.1"
},
{
"aa_ref": "A",
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{
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{
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],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}