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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: 9-34637419-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=34637419&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 34637419,
"ref": "C",
"alt": "T",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "NM_005866.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.153G>A",
"hgvs_p": "p.Gly51Gly",
"transcript": "NM_005866.4",
"protein_id": "NP_005857.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 223,
"cds_start": 153,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000277010.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005866.4"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.153G>A",
"hgvs_p": "p.Gly51Gly",
"transcript": "ENST00000277010.9",
"protein_id": "ENSP00000277010.4",
"transcript_support_level": 1,
"aa_start": 51,
"aa_end": null,
"aa_length": 223,
"cds_start": 153,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005866.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000277010.9"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.153G>A",
"hgvs_p": "p.Gly51Gly",
"transcript": "ENST00000477726.1",
"protein_id": "ENSP00000420022.1",
"transcript_support_level": 1,
"aa_start": 51,
"aa_end": null,
"aa_length": 192,
"cds_start": 153,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000477726.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "n.153G>A",
"hgvs_p": null,
"transcript": "ENST00000353468.4",
"protein_id": "ENSP00000434453.1",
"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": "ENST00000353468.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "n.378G>A",
"hgvs_p": null,
"transcript": "ENST00000461426.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000461426.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.-101G>A",
"hgvs_p": null,
"transcript": "NM_001282206.2",
"protein_id": "NP_001269135.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 123,
"cds_start": null,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282206.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.153G>A",
"hgvs_p": "p.Gly51Gly",
"transcript": "ENST00000902807.1",
"protein_id": "ENSP00000572866.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 217,
"cds_start": 153,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902807.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.153G>A",
"hgvs_p": "p.Gly51Gly",
"transcript": "ENST00000902806.1",
"protein_id": "ENSP00000572865.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 215,
"cds_start": 153,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902806.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.93G>A",
"hgvs_p": "p.Gly31Gly",
"transcript": "NM_001282207.2",
"protein_id": "NP_001269136.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 203,
"cds_start": 93,
"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_001282207.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.93G>A",
"hgvs_p": "p.Gly31Gly",
"transcript": "ENST00000679597.1",
"protein_id": "ENSP00000505634.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 203,
"cds_start": 93,
"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": "ENST00000679597.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.153G>A",
"hgvs_p": "p.Gly51Gly",
"transcript": "ENST00000934986.1",
"protein_id": "ENSP00000605045.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 193,
"cds_start": 153,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934986.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.153G>A",
"hgvs_p": "p.Gly51Gly",
"transcript": "NM_147157.3",
"protein_id": "NP_671513.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 192,
"cds_start": 153,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_147157.3"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.93G>A",
"hgvs_p": "p.Gly31Gly",
"transcript": "ENST00000902808.1",
"protein_id": "ENSP00000572867.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 172,
"cds_start": 93,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902808.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.153G>A",
"hgvs_p": "p.Gly51Gly",
"transcript": "NM_001282208.2",
"protein_id": "NP_001269137.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 159,
"cds_start": 153,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282208.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.153G>A",
"hgvs_p": "p.Gly51Gly",
"transcript": "ENST00000680277.1",
"protein_id": "ENSP00000505742.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 159,
"cds_start": 153,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680277.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.153G>A",
"hgvs_p": "p.Gly51Gly",
"transcript": "ENST00000934985.1",
"protein_id": "ENSP00000605044.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 158,
"cds_start": 153,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934985.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.153G>A",
"hgvs_p": "p.Gly51Gly",
"transcript": "NM_001282205.2",
"protein_id": "NP_001269134.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 155,
"cds_start": 153,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282205.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.153G>A",
"hgvs_p": "p.Gly51Gly",
"transcript": "ENST00000680244.1",
"protein_id": "ENSP00000505305.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 155,
"cds_start": 153,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680244.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.153G>A",
"hgvs_p": "p.Gly51Gly",
"transcript": "NM_001282209.2",
"protein_id": "NP_001269138.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 110,
"cds_start": 153,
"cds_end": null,
"cds_length": 333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282209.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.153G>A",
"hgvs_p": "p.Gly51Gly",
"transcript": "ENST00000680730.1",
"protein_id": "ENSP00000505588.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 110,
"cds_start": 153,
"cds_end": null,
"cds_length": 333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680730.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALT",
"gene_hgnc_id": 4135,
"hgvs_c": "c.-422C>T",
"hgvs_p": null,
"transcript": "ENST00000902330.1",
"protein_id": "ENSP00000572389.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 379,
"cds_start": null,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902330.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.-115G>A",
"hgvs_p": null,
"transcript": "ENST00000378892.5",
"protein_id": "ENSP00000368170.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
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"dbscsnv_ada_prediction": "Benign",
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{
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"BP7",
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"transcript": "NM_005866.4",
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"effects": [
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{
"score": -18,
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],
"clinvar_disease": "Amyotrophic lateral sclerosis type 16,Autosomal recessive distal spinal muscular atrophy 2,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "Amyotrophic lateral sclerosis type 16;Autosomal recessive distal spinal muscular atrophy 2|not provided|not specified",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}