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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: 9-34635727-TGCTGAAGACAGTGTCG-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=34635727&ref=TGCTGAAGACAGTGTCG&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 34635727,
"ref": "TGCTGAAGACAGTGTCG",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "ENST00000277010.9",
"consequences": [
{
"aa_ref": "ADTVFS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.561_576delCGACACTGTCTTCAGC",
"hgvs_p": "p.Asp188fs",
"transcript": "NM_005866.4",
"protein_id": "NP_005857.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 223,
"cds_start": 561,
"cds_end": null,
"cds_length": 672,
"cdna_start": 666,
"cdna_end": null,
"cdna_length": 1672,
"mane_select": "ENST00000277010.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ADTVFS",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.561_576delCGACACTGTCTTCAGC",
"hgvs_p": "p.Asp188fs",
"transcript": "ENST00000277010.9",
"protein_id": "ENSP00000277010.4",
"transcript_support_level": 1,
"aa_start": 187,
"aa_end": null,
"aa_length": 223,
"cds_start": 561,
"cds_end": null,
"cds_length": 672,
"cdna_start": 666,
"cdna_end": null,
"cdna_length": 1672,
"mane_select": "NM_005866.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ADTVFS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.468_483delCGACACTGTCTTCAGC",
"hgvs_p": "p.Asp157fs",
"transcript": "ENST00000477726.1",
"protein_id": "ENSP00000420022.1",
"transcript_support_level": 1,
"aa_start": 156,
"aa_end": null,
"aa_length": 192,
"cds_start": 468,
"cds_end": null,
"cds_length": 579,
"cdna_start": 595,
"cdna_end": null,
"cdna_length": 840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "n.*193_*208delCGACACTGTCTTCAGC",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "n.693_708delCGACACTGTCTTCAGC",
"hgvs_p": null,
"transcript": "ENST00000461426.1",
"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": 939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "n.*193_*208delCGACACTGTCTTCAGC",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ADTVFS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.501_516delCGACACTGTCTTCAGC",
"hgvs_p": "p.Asp168fs",
"transcript": "NM_001282207.2",
"protein_id": "NP_001269136.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 203,
"cds_start": 501,
"cds_end": null,
"cds_length": 612,
"cdna_start": 606,
"cdna_end": null,
"cdna_length": 1612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ADTVFS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.501_516delCGACACTGTCTTCAGC",
"hgvs_p": "p.Asp168fs",
"transcript": "ENST00000679597.1",
"protein_id": "ENSP00000505634.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 203,
"cds_start": 501,
"cds_end": null,
"cds_length": 612,
"cdna_start": 606,
"cdna_end": null,
"cdna_length": 1612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ADTVFS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.468_483delCGACACTGTCTTCAGC",
"hgvs_p": "p.Asp157fs",
"transcript": "NM_147157.3",
"protein_id": "NP_671513.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 192,
"cds_start": 468,
"cds_end": null,
"cds_length": 579,
"cdna_start": 573,
"cdna_end": null,
"cdna_length": 1579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ADTVFS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.294_309delCGACACTGTCTTCAGC",
"hgvs_p": "p.Asp99fs",
"transcript": "ENST00000378892.5",
"protein_id": "ENSP00000368170.1",
"transcript_support_level": 2,
"aa_start": 98,
"aa_end": null,
"aa_length": 134,
"cds_start": 294,
"cds_end": null,
"cds_length": 405,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 1743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ADTVFS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.261_276delCGACACTGTCTTCAGC",
"hgvs_p": "p.Asp88fs",
"transcript": "NM_001282206.2",
"protein_id": "NP_001269135.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 123,
"cds_start": 261,
"cds_end": null,
"cds_length": 372,
"cdna_start": 619,
"cdna_end": null,
"cdna_length": 1625,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "n.838_853delCGACACTGTCTTCAGC",
"hgvs_p": null,
"transcript": "ENST00000497006.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1842,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "n.*731_*746delCGACACTGTCTTCAGC",
"hgvs_p": null,
"transcript": "ENST00000680104.1",
"protein_id": "ENSP00000505949.1",
"transcript_support_level": null,
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"cds_start": -4,
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"mane_select": null,
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},
{
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"strand": false,
"consequences": [
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],
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"exon_count": 2,
"intron_rank": null,
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"gene_symbol": "SIGMAR1",
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"hgvs_c": "n.1948_1963delCGACACTGTCTTCAGC",
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},
{
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"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "n.538_553delCGACACTGTCTTCAGC",
"hgvs_p": null,
"transcript": "NR_104108.2",
"protein_id": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 4,
"exon_rank_end": null,
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"intron_rank": null,
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"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.*104_*119delCGACACTGTCTTCAGC",
"hgvs_p": null,
"transcript": "NM_001282208.2",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.*88_*103delCGACACTGTCTTCAGC",
"hgvs_p": null,
"transcript": "NM_001282209.2",
"protein_id": "NP_001269138.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.*88_*103delCGACACTGTCTTCAGC",
"hgvs_p": null,
"transcript": "ENST00000680730.1",
"protein_id": "ENSP00000505588.1",
"transcript_support_level": null,
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"cds_start": -4,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 4,
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"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "n.*731_*746delCGACACTGTCTTCAGC",
"hgvs_p": null,
"transcript": "ENST00000680104.1",
"protein_id": "ENSP00000505949.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.446-103_446-88delCGACACTGTCTTCAGC",
"hgvs_p": null,
"transcript": "NM_001282205.2",
"protein_id": "NP_001269134.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.446-103_446-88delCGACACTGTCTTCAGC",
"hgvs_p": null,
"transcript": "ENST00000680244.1",
"protein_id": "ENSP00000505305.1",
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"aa_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.*104_*119delCGACACTGTCTTCAGC",
"hgvs_p": null,
"transcript": "ENST00000680277.1",
"protein_id": "ENSP00000505742.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 159,
"cds_start": -4,
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"cds_length": 480,
"cdna_start": null,
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"cdna_length": 630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"dbsnp": "rs1554707680",
"frequency_reference_population": 0.0000018586186,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000136809,
"gnomad_genomes_af": 0.00000656987,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 8.68,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000277010.9",
"gene_symbol": "SIGMAR1",
"hgnc_id": 8157,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.561_576delCGACACTGTCTTCAGC",
"hgvs_p": "p.Asp188fs"
}
],
"clinvar_disease": "Amyotrophic lateral sclerosis type 16,Autosomal recessive distal spinal muscular atrophy 2",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LP:2",
"phenotype_combined": "Amyotrophic lateral sclerosis type 16|Autosomal recessive distal spinal muscular atrophy 2;Amyotrophic lateral sclerosis type 16",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}