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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: 22-32528939-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=32528939&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 32528939,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_003490.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYN3",
"gene_hgnc_id": 11496,
"hgvs_c": "c.1165G>C",
"hgvs_p": "p.Val389Leu",
"transcript": "NM_003490.4",
"protein_id": "NP_003481.3",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 580,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1417,
"cdna_end": null,
"cdna_length": 7867,
"mane_select": "ENST00000358763.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYN3",
"gene_hgnc_id": 11496,
"hgvs_c": "c.1165G>C",
"hgvs_p": "p.Val389Leu",
"transcript": "ENST00000358763.7",
"protein_id": "ENSP00000351614.2",
"transcript_support_level": 5,
"aa_start": 389,
"aa_end": null,
"aa_length": 580,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1417,
"cdna_end": null,
"cdna_length": 7867,
"mane_select": "NM_003490.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYN3",
"gene_hgnc_id": 11496,
"hgvs_c": "c.1165G>C",
"hgvs_p": "p.Val389Leu",
"transcript": "NM_001369907.1",
"protein_id": "NP_001356836.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 580,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1414,
"cdna_end": null,
"cdna_length": 7864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYN3",
"gene_hgnc_id": 11496,
"hgvs_c": "c.1165G>C",
"hgvs_p": "p.Val389Leu",
"transcript": "NM_001369908.1",
"protein_id": "NP_001356837.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 580,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1647,
"cdna_end": null,
"cdna_length": 8097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYN3",
"gene_hgnc_id": 11496,
"hgvs_c": "c.1162G>C",
"hgvs_p": "p.Val388Leu",
"transcript": "NM_001135774.2",
"protein_id": "NP_001129246.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 579,
"cds_start": 1162,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1414,
"cdna_end": null,
"cdna_length": 7864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYN3",
"gene_hgnc_id": 11496,
"hgvs_c": "c.1162G>C",
"hgvs_p": "p.Val388Leu",
"transcript": "NM_001369909.1",
"protein_id": "NP_001356838.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 579,
"cds_start": 1162,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1411,
"cdna_end": null,
"cdna_length": 7861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYN3",
"gene_hgnc_id": 11496,
"hgvs_c": "c.1162G>C",
"hgvs_p": "p.Val388Leu",
"transcript": "NM_001369910.1",
"protein_id": "NP_001356839.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 579,
"cds_start": 1162,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1375,
"cdna_end": null,
"cdna_length": 7825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYN3",
"gene_hgnc_id": 11496,
"hgvs_c": "c.1165G>C",
"hgvs_p": "p.Val389Leu",
"transcript": "NM_133633.3",
"protein_id": "NP_598344.2",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 444,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1324,
"cdna_end": null,
"cdna_length": 7482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYN3",
"gene_hgnc_id": 11496,
"hgvs_c": "c.1165G>C",
"hgvs_p": "p.Val389Leu",
"transcript": "XM_011530405.4",
"protein_id": "XP_011528707.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 580,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1735,
"cdna_end": null,
"cdna_length": 8185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYN3",
"gene_hgnc_id": 11496,
"hgvs_c": "c.1165G>C",
"hgvs_p": "p.Val389Leu",
"transcript": "XM_017028961.3",
"protein_id": "XP_016884450.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 580,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 2174,
"cdna_end": null,
"cdna_length": 8624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYN3",
"gene_hgnc_id": 11496,
"hgvs_c": "c.1165G>C",
"hgvs_p": "p.Val389Leu",
"transcript": "XM_017028962.3",
"protein_id": "XP_016884451.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 580,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 2548,
"cdna_end": null,
"cdna_length": 8998,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYN3",
"gene_hgnc_id": 11496,
"hgvs_c": "c.1165G>C",
"hgvs_p": "p.Val389Leu",
"transcript": "XM_017028963.3",
"protein_id": "XP_016884452.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 580,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 2169,
"cdna_end": null,
"cdna_length": 8619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYN3",
"gene_hgnc_id": 11496,
"hgvs_c": "c.1162G>C",
"hgvs_p": "p.Val388Leu",
"transcript": "XM_047441525.1",
"protein_id": "XP_047297481.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 579,
"cds_start": 1162,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1644,
"cdna_end": null,
"cdna_length": 8094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYN3",
"gene_hgnc_id": 11496,
"hgvs_c": "c.1162G>C",
"hgvs_p": "p.Val388Leu",
"transcript": "XM_047441526.1",
"protein_id": "XP_047297482.1",
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"aa_start": 388,
"aa_end": null,
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"cds_start": 1162,
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"cdna_start": 2169,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYN3",
"gene_hgnc_id": 11496,
"hgvs_c": "c.1162G>C",
"hgvs_p": "p.Val388Leu",
"transcript": "XM_047441527.1",
"protein_id": "XP_047297483.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 579,
"cds_start": 1162,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 2171,
"cdna_end": null,
"cdna_length": 8621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYN3",
"gene_hgnc_id": 11496,
"hgvs_c": "c.811G>C",
"hgvs_p": "p.Val271Leu",
"transcript": "XM_011530410.4",
"protein_id": "XP_011528712.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 462,
"cds_start": 811,
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"cdna_start": 1646,
"cdna_end": null,
"cdna_length": 8096,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "SYN3",
"gene_hgnc_id": 11496,
"hgvs_c": "c.1165G>C",
"hgvs_p": "p.Val389Leu",
"transcript": "XM_047441528.1",
"protein_id": "XP_047297484.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 439,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 1417,
"cdna_end": null,
"cdna_length": 1774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "SYN3",
"gene_hgnc_id": 11496,
"hgvs_c": "c.1165G>C",
"hgvs_p": "p.Val389Leu",
"transcript": "XM_047441529.1",
"protein_id": "XP_047297485.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 439,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 1414,
"cdna_end": null,
"cdna_length": 1771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "SYN3",
"gene_hgnc_id": 11496,
"hgvs_c": "c.1162G>C",
"hgvs_p": "p.Val388Leu",
"transcript": "XM_047441530.1",
"protein_id": "XP_047297486.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 438,
"cds_start": 1162,
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"cdna_start": 1414,
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"mane_select": null,
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"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYN3",
"gene_hgnc_id": 11496,
"hgvs_c": "n.226G>C",
"hgvs_p": null,
"transcript": "ENST00000459990.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 574,
"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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYN3",
"gene_hgnc_id": 11496,
"hgvs_c": "n.144G>C",
"hgvs_p": null,
"transcript": "ENST00000461446.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 713,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYN3",
"gene_hgnc_id": 11496,
"hgvs_c": "n.212G>C",
"hgvs_p": null,
"transcript": "ENST00000468922.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 507,
"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": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYN3",
"gene_hgnc_id": 11496,
"hgvs_c": "n.133G>C",
"hgvs_p": null,
"transcript": "ENST00000483062.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SYN3",
"gene_hgnc_id": 11496,
"dbsnp": "rs1295835023",
"frequency_reference_population": 0.0000037174905,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000342041,
"gnomad_genomes_af": 0.00000657117,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7506751418113708,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.439,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7424,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.1,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"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": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003490.4",
"gene_symbol": "SYN3",
"hgnc_id": 11496,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1165G>C",
"hgvs_p": "p.Val389Leu"
}
],
"clinvar_disease": "not specified",
"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
}