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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: 12-48132929-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=48132929&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 48132929,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000359794.11",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.299G>A",
"hgvs_p": "p.Arg100Gln",
"transcript": "NM_000289.6",
"protein_id": "NP_000280.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 780,
"cds_start": 299,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 3090,
"mane_select": "ENST00000359794.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.299G>A",
"hgvs_p": "p.Arg100Gln",
"transcript": "ENST00000359794.11",
"protein_id": "ENSP00000352842.5",
"transcript_support_level": 1,
"aa_start": 100,
"aa_end": null,
"aa_length": 780,
"cds_start": 299,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 3090,
"mane_select": "NM_000289.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.299G>A",
"hgvs_p": "p.Arg100Gln",
"transcript": "ENST00000312352.11",
"protein_id": "ENSP00000309438.7",
"transcript_support_level": 1,
"aa_start": 100,
"aa_end": null,
"aa_length": 780,
"cds_start": 299,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 338,
"cdna_end": null,
"cdna_length": 3078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.299G>A",
"hgvs_p": "p.Arg100Gln",
"transcript": "ENST00000547587.5",
"protein_id": "ENSP00000449426.1",
"transcript_support_level": 1,
"aa_start": 100,
"aa_end": null,
"aa_length": 780,
"cds_start": 299,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 427,
"cdna_end": null,
"cdna_length": 2867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "n.371G>A",
"hgvs_p": null,
"transcript": "ENST00000546964.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.608G>A",
"hgvs_p": "p.Arg203Gln",
"transcript": "NM_001354735.1",
"protein_id": "NP_001341664.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 883,
"cds_start": 608,
"cds_end": null,
"cds_length": 2652,
"cdna_start": 754,
"cdna_end": null,
"cdna_length": 3494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.608G>A",
"hgvs_p": "p.Arg203Gln",
"transcript": "NM_001354736.1",
"protein_id": "NP_001341665.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 883,
"cds_start": 608,
"cds_end": null,
"cds_length": 2652,
"cdna_start": 813,
"cdna_end": null,
"cdna_length": 3553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.608G>A",
"hgvs_p": "p.Arg203Gln",
"transcript": "ENST00000642730.1",
"protein_id": "ENSP00000496597.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 883,
"cds_start": 608,
"cds_end": null,
"cds_length": 2652,
"cdna_start": 752,
"cdna_end": null,
"cdna_length": 3167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.521G>A",
"hgvs_p": "p.Arg174Gln",
"transcript": "ENST00000550257.7",
"protein_id": "ENSP00000447997.3",
"transcript_support_level": 4,
"aa_start": 174,
"aa_end": null,
"aa_length": 854,
"cds_start": 521,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 645,
"cdna_end": null,
"cdna_length": 3385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.512G>A",
"hgvs_p": "p.Arg171Gln",
"transcript": "NM_001166686.2",
"protein_id": "NP_001160158.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 851,
"cds_start": 512,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 736,
"cdna_end": null,
"cdna_length": 3476,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.512G>A",
"hgvs_p": "p.Arg171Gln",
"transcript": "NM_001354737.1",
"protein_id": "NP_001341666.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 851,
"cds_start": 512,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 717,
"cdna_end": null,
"cdna_length": 3457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.512G>A",
"hgvs_p": "p.Arg171Gln",
"transcript": "NM_001354738.1",
"protein_id": "NP_001341667.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 851,
"cds_start": 512,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 587,
"cdna_end": null,
"cdna_length": 3327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.512G>A",
"hgvs_p": "p.Arg171Gln",
"transcript": "NM_001354739.1",
"protein_id": "NP_001341668.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 851,
"cds_start": 512,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 658,
"cdna_end": null,
"cdna_length": 3398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.512G>A",
"hgvs_p": "p.Arg171Gln",
"transcript": "ENST00000340802.12",
"protein_id": "ENSP00000345771.6",
"transcript_support_level": 2,
"aa_start": 171,
"aa_end": null,
"aa_length": 851,
"cds_start": 512,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 736,
"cdna_end": null,
"cdna_length": 3476,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.443G>A",
"hgvs_p": "p.Arg148Gln",
"transcript": "NM_001354740.1",
"protein_id": "NP_001341669.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 828,
"cds_start": 443,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 540,
"cdna_end": null,
"cdna_length": 3280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.512G>A",
"hgvs_p": "p.Arg171Gln",
"transcript": "NM_001439058.1",
"protein_id": "NP_001425987.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 820,
"cds_start": 512,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 727,
"cdna_end": null,
"cdna_length": 3374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.323G>A",
"hgvs_p": "p.Arg108Gln",
"transcript": "NM_001354741.2",
"protein_id": "NP_001341670.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 788,
"cds_start": 323,
"cds_end": null,
"cds_length": 2367,
"cdna_start": 470,
"cdna_end": null,
"cdna_length": 3210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.299G>A",
"hgvs_p": "p.Arg100Gln",
"transcript": "NM_001166687.2",
"protein_id": "NP_001160159.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 780,
"cds_start": 299,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 338,
"cdna_end": null,
"cdna_length": 3078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.299G>A",
"hgvs_p": "p.Arg100Gln",
"transcript": "NM_001166688.2",
"protein_id": "NP_001160160.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 780,
"cds_start": 299,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 427,
"cdna_end": null,
"cdna_length": 3167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.299G>A",
"hgvs_p": "p.Arg100Gln",
"transcript": "NM_001354742.2",
"protein_id": "NP_001341671.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 780,
"cds_start": 299,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 374,
"cdna_end": null,
"cdna_length": 3114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.299G>A",
"hgvs_p": "p.Arg100Gln",
"transcript": "NM_001354743.2",
"protein_id": "NP_001341672.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 780,
"cds_start": 299,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 637,
"cdna_end": null,
"cdna_length": 3377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.299G>A",
"hgvs_p": "p.Arg100Gln",
"transcript": "NM_001354744.2",
"protein_id": "NP_001341673.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 780,
"cds_start": 299,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 398,
"cdna_end": null,
"cdna_length": 3138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.299G>A",
"hgvs_p": "p.Arg100Gln",
"transcript": "ENST00000550345.6",
"protein_id": "ENSP00000450369.2",
"transcript_support_level": 4,
"aa_start": 100,
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{
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"BA1"
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"verdict": "Benign",
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{
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],
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"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:8",
"phenotype_combined": "not specified|Glycogen storage disease, type VII|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}