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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: 5-150648499-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=150648499&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 150648499,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001166208.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNPO",
"gene_hgnc_id": 30672,
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Ser75Leu",
"transcript": "NM_007286.6",
"protein_id": "NP_009217.3",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 903,
"cds_start": 224,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000307662.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007286.6"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNPO",
"gene_hgnc_id": 30672,
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Ser75Leu",
"transcript": "ENST00000307662.5",
"protein_id": "ENSP00000302139.4",
"transcript_support_level": 1,
"aa_start": 75,
"aa_end": null,
"aa_length": 903,
"cds_start": 224,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007286.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000307662.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNPO",
"gene_hgnc_id": 30672,
"hgvs_c": "c.956C>T",
"hgvs_p": "p.Ser319Leu",
"transcript": "ENST00000394243.5",
"protein_id": "ENSP00000377789.1",
"transcript_support_level": 1,
"aa_start": 319,
"aa_end": null,
"aa_length": 929,
"cds_start": 956,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394243.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNPO",
"gene_hgnc_id": 30672,
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Ser75Leu",
"transcript": "ENST00000519664.1",
"protein_id": "ENSP00000429268.1",
"transcript_support_level": 1,
"aa_start": 75,
"aa_end": null,
"aa_length": 685,
"cds_start": 224,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519664.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNPO",
"gene_hgnc_id": 30672,
"hgvs_c": "c.956C>T",
"hgvs_p": "p.Ser319Leu",
"transcript": "NM_001166208.2",
"protein_id": "NP_001159680.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 929,
"cds_start": 956,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166208.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNPO",
"gene_hgnc_id": 30672,
"hgvs_c": "c.956C>T",
"hgvs_p": "p.Ser319Leu",
"transcript": "NM_001166209.2",
"protein_id": "NP_001159681.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 929,
"cds_start": 956,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166209.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNPO",
"gene_hgnc_id": 30672,
"hgvs_c": "c.956C>T",
"hgvs_p": "p.Ser319Leu",
"transcript": "ENST00000522122.1",
"protein_id": "ENSP00000428378.1",
"transcript_support_level": 2,
"aa_start": 319,
"aa_end": null,
"aa_length": 929,
"cds_start": 956,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522122.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNPO",
"gene_hgnc_id": 30672,
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Ser75Leu",
"transcript": "ENST00000866117.1",
"protein_id": "ENSP00000536176.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 903,
"cds_start": 224,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866117.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNPO",
"gene_hgnc_id": 30672,
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Ser75Leu",
"transcript": "ENST00000866118.1",
"protein_id": "ENSP00000536177.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 903,
"cds_start": 224,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866118.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNPO",
"gene_hgnc_id": 30672,
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Ser75Leu",
"transcript": "ENST00000952230.1",
"protein_id": "ENSP00000622289.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 903,
"cds_start": 224,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952230.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNPO",
"gene_hgnc_id": 30672,
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Ser75Leu",
"transcript": "NM_001109974.3",
"protein_id": "NP_001103444.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 685,
"cds_start": 224,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001109974.3"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNPO",
"gene_hgnc_id": 30672,
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Ser75Leu",
"transcript": "ENST00000866119.1",
"protein_id": "ENSP00000536178.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 376,
"cds_start": 224,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866119.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNPO",
"gene_hgnc_id": 30672,
"hgvs_c": "c.956C>T",
"hgvs_p": "p.Ser319Leu",
"transcript": "XM_006714755.4",
"protein_id": "XP_006714818.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 1147,
"cds_start": 956,
"cds_end": null,
"cds_length": 3444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006714755.4"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNPO",
"gene_hgnc_id": 30672,
"hgvs_c": "c.956C>T",
"hgvs_p": "p.Ser319Leu",
"transcript": "XM_017009008.2",
"protein_id": "XP_016864497.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 1147,
"cds_start": 956,
"cds_end": null,
"cds_length": 3444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009008.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNPO",
"gene_hgnc_id": 30672,
"hgvs_c": "c.956C>T",
"hgvs_p": "p.Ser319Leu",
"transcript": "XM_047416684.1",
"protein_id": "XP_047272640.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 1147,
"cds_start": 956,
"cds_end": null,
"cds_length": 3444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416684.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNPO",
"gene_hgnc_id": 30672,
"hgvs_c": "c.956C>T",
"hgvs_p": "p.Ser319Leu",
"transcript": "XM_047416685.1",
"protein_id": "XP_047272641.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 1147,
"cds_start": 956,
"cds_end": null,
"cds_length": 3444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416685.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNPO",
"gene_hgnc_id": 30672,
"hgvs_c": "c.956C>T",
"hgvs_p": "p.Ser319Leu",
"transcript": "XM_047416686.1",
"protein_id": "XP_047272642.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 1147,
"cds_start": 956,
"cds_end": null,
"cds_length": 3444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416686.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNPO",
"gene_hgnc_id": 30672,
"hgvs_c": "c.956C>T",
"hgvs_p": "p.Ser319Leu",
"transcript": "XM_047416687.1",
"protein_id": "XP_047272643.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 1147,
"cds_start": 956,
"cds_end": null,
"cds_length": 3444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416687.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNPO",
"gene_hgnc_id": 30672,
"hgvs_c": "c.956C>T",
"hgvs_p": "p.Ser319Leu",
"transcript": "XM_047416688.1",
"protein_id": "XP_047272644.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 1147,
"cds_start": 956,
"cds_end": null,
"cds_length": 3444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416688.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNPO",
"gene_hgnc_id": 30672,
"hgvs_c": "c.956C>T",
"hgvs_p": "p.Ser319Leu",
"transcript": "XM_047416689.1",
"protein_id": "XP_047272645.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 1147,
"cds_start": 956,
"cds_end": null,
"cds_length": 3444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416689.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNPO",
"gene_hgnc_id": 30672,
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Ser75Leu",
"transcript": "XM_005268371.2",
"protein_id": "XP_005268428.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 903,
"cds_start": 224,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005268371.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNPO",
"gene_hgnc_id": 30672,
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Ser75Leu",
"transcript": "XM_024454351.2",
"protein_id": "XP_024310119.2",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 685,
"cds_start": 224,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024454351.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SYNPO",
"gene_hgnc_id": 30672,
"hgvs_c": "n.140-7C>T",
"hgvs_p": null,
"transcript": "ENST00000518872.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000518872.1"
}
],
"gene_symbol": "SYNPO",
"gene_hgnc_id": 30672,
"dbsnp": "rs200631093",
"frequency_reference_population": 0.000091067006,
"hom_count_reference_population": 0,
"allele_count_reference_population": 147,
"gnomad_exomes_af": 0.0000882417,
"gnomad_genomes_af": 0.000118186,
"gnomad_exomes_ac": 129,
"gnomad_genomes_ac": 18,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.036029040813446045,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.038,
"revel_prediction": "Benign",
"alphamissense_score": 0.0823,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.029,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001166208.2",
"gene_symbol": "SYNPO",
"hgnc_id": 30672,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.956C>T",
"hgvs_p": "p.Ser319Leu"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}