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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: 7-97853071-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=97853071&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 97853071,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000394308.8",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "c.1465G>A",
"hgvs_p": "p.Val489Ile",
"transcript": "NM_001673.5",
"protein_id": "NP_001664.3",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 561,
"cds_start": 1465,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1582,
"cdna_end": null,
"cdna_length": 2385,
"mane_select": "ENST00000394308.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "c.1465G>A",
"hgvs_p": "p.Val489Ile",
"transcript": "ENST00000394308.8",
"protein_id": "ENSP00000377845.3",
"transcript_support_level": 1,
"aa_start": 489,
"aa_end": null,
"aa_length": 561,
"cds_start": 1465,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1582,
"cdna_end": null,
"cdna_length": 2385,
"mane_select": "NM_001673.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "c.1465G>A",
"hgvs_p": "p.Val489Ile",
"transcript": "ENST00000175506.8",
"protein_id": "ENSP00000175506.4",
"transcript_support_level": 1,
"aa_start": 489,
"aa_end": null,
"aa_length": 561,
"cds_start": 1465,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1994,
"cdna_end": null,
"cdna_length": 2356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "c.1465G>A",
"hgvs_p": "p.Val489Ile",
"transcript": "NM_001352496.2",
"protein_id": "NP_001339425.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 561,
"cds_start": 1465,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1983,
"cdna_end": null,
"cdna_length": 2786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "c.1465G>A",
"hgvs_p": "p.Val489Ile",
"transcript": "NM_133436.3",
"protein_id": "NP_597680.2",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 561,
"cds_start": 1465,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1971,
"cdna_end": null,
"cdna_length": 2334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "c.1465G>A",
"hgvs_p": "p.Val489Ile",
"transcript": "NM_183356.4",
"protein_id": "NP_899199.2",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 561,
"cds_start": 1465,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1860,
"cdna_end": null,
"cdna_length": 2663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "c.1465G>A",
"hgvs_p": "p.Val489Ile",
"transcript": "ENST00000394309.7",
"protein_id": "ENSP00000377846.3",
"transcript_support_level": 2,
"aa_start": 489,
"aa_end": null,
"aa_length": 561,
"cds_start": 1465,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1937,
"cdna_end": null,
"cdna_length": 2289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "c.1402G>A",
"hgvs_p": "p.Val468Ile",
"transcript": "NM_001178075.2",
"protein_id": "NP_001171546.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 540,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1508,
"cdna_end": null,
"cdna_length": 2311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "c.1402G>A",
"hgvs_p": "p.Val468Ile",
"transcript": "ENST00000422745.5",
"protein_id": "ENSP00000414901.1",
"transcript_support_level": 5,
"aa_start": 468,
"aa_end": null,
"aa_length": 540,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1531,
"cdna_end": null,
"cdna_length": 1865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "c.1402G>A",
"hgvs_p": "p.Val468Ile",
"transcript": "ENST00000444334.5",
"protein_id": "ENSP00000406994.1",
"transcript_support_level": 2,
"aa_start": 468,
"aa_end": null,
"aa_length": 540,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1536,
"cdna_end": null,
"cdna_length": 1812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "c.1216G>A",
"hgvs_p": "p.Val406Ile",
"transcript": "NM_001178076.2",
"protein_id": "NP_001171547.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 478,
"cds_start": 1216,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1274,
"cdna_end": null,
"cdna_length": 2077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "c.1216G>A",
"hgvs_p": "p.Val406Ile",
"transcript": "NM_001178077.1",
"protein_id": "NP_001171548.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 478,
"cds_start": 1216,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1341,
"cdna_end": null,
"cdna_length": 1704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "c.1216G>A",
"hgvs_p": "p.Val406Ile",
"transcript": "ENST00000437628.5",
"protein_id": "ENSP00000414379.1",
"transcript_support_level": 2,
"aa_start": 406,
"aa_end": null,
"aa_length": 478,
"cds_start": 1216,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1289,
"cdna_end": null,
"cdna_length": 1638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "c.1216G>A",
"hgvs_p": "p.Val406Ile",
"transcript": "ENST00000455086.5",
"protein_id": "ENSP00000408472.1",
"transcript_support_level": 2,
"aa_start": 406,
"aa_end": null,
"aa_length": 478,
"cds_start": 1216,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1260,
"cdna_end": null,
"cdna_length": 1588,
"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": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "n.*333G>A",
"hgvs_p": null,
"transcript": "ENST00000454046.5",
"protein_id": "ENSP00000401651.1",
"transcript_support_level": 5,
"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": 1947,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "n.523G>A",
"hgvs_p": null,
"transcript": "ENST00000487714.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 689,
"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": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000284707",
"gene_hgnc_id": null,
"hgvs_c": "n.1715G>A",
"hgvs_p": null,
"transcript": "ENST00000641315.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2059,
"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": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000284707",
"gene_hgnc_id": null,
"hgvs_c": "n.2419G>A",
"hgvs_p": null,
"transcript": "ENST00000641390.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3211,
"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": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000284707",
"gene_hgnc_id": null,
"hgvs_c": "n.2951G>A",
"hgvs_p": null,
"transcript": "ENST00000641784.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 3743,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CZ1P-ASNS",
"gene_hgnc_id": null,
"hgvs_c": "n.3168G>A",
"hgvs_p": null,
"transcript": "NR_147989.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3531,
"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": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "n.*333G>A",
"hgvs_p": null,
"transcript": "ENST00000454046.5",
"protein_id": "ENSP00000401651.1",
"transcript_support_level": 5,
"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": 1947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"dbsnp": "rs772079299",
"frequency_reference_population": 0.00023745118,
"hom_count_reference_population": 0,
"allele_count_reference_population": 375,
"gnomad_exomes_af": 0.000248756,
"gnomad_genomes_af": 0.000131432,
"gnomad_exomes_ac": 355,
"gnomad_genomes_ac": 20,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.023894518613815308,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.027,
"revel_prediction": "Benign",
"alphamissense_score": 0.0843,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.69,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.024,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP2,BP4_Strong",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 4,
"pathogenic_score": 1,
"criteria": [
"PP2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000394308.8",
"gene_symbol": "ASNS",
"hgnc_id": 753,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1465G>A",
"hgvs_p": "p.Val489Ile"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NR_147989.1",
"gene_symbol": "CZ1P-ASNS",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.3168G>A",
"hgvs_p": null
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000641315.1",
"gene_symbol": "ENSG00000284707",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1715G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome,Inborn genetic diseases,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:4 LB:1",
"phenotype_combined": "not provided|Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}