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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: 9-128632218-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=128632218&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 128632218,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000372739.7",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6854A>C",
"hgvs_p": "p.Asn2285Thr",
"transcript": "NM_001130438.3",
"protein_id": "NP_001123910.1",
"transcript_support_level": null,
"aa_start": 2285,
"aa_end": null,
"aa_length": 2477,
"cds_start": 6854,
"cds_end": null,
"cds_length": 7434,
"cdna_start": 6967,
"cdna_end": null,
"cdna_length": 7875,
"mane_select": "ENST00000372739.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6854A>C",
"hgvs_p": "p.Asn2285Thr",
"transcript": "ENST00000372739.7",
"protein_id": "ENSP00000361824.4",
"transcript_support_level": 1,
"aa_start": 2285,
"aa_end": null,
"aa_length": 2477,
"cds_start": 6854,
"cds_end": null,
"cds_length": 7434,
"cdna_start": 6967,
"cdna_end": null,
"cdna_length": 7875,
"mane_select": "NM_001130438.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6839A>C",
"hgvs_p": "p.Asn2280Thr",
"transcript": "ENST00000372731.8",
"protein_id": "ENSP00000361816.4",
"transcript_support_level": 1,
"aa_start": 2280,
"aa_end": null,
"aa_length": 2472,
"cds_start": 6839,
"cds_end": null,
"cds_length": 7419,
"cdna_start": 6981,
"cdna_end": null,
"cdna_length": 7889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6779A>C",
"hgvs_p": "p.Asn2260Thr",
"transcript": "ENST00000358161.9",
"protein_id": "ENSP00000350882.6",
"transcript_support_level": 1,
"aa_start": 2260,
"aa_end": null,
"aa_length": 2452,
"cds_start": 6779,
"cds_end": null,
"cds_length": 7359,
"cdna_start": 6886,
"cdna_end": null,
"cdna_length": 7794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6953A>C",
"hgvs_p": "p.Asn2318Thr",
"transcript": "NM_001375318.1",
"protein_id": "NP_001362247.1",
"transcript_support_level": null,
"aa_start": 2318,
"aa_end": null,
"aa_length": 2510,
"cds_start": 6953,
"cds_end": null,
"cds_length": 7533,
"cdna_start": 7696,
"cdna_end": null,
"cdna_length": 8604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6941A>C",
"hgvs_p": "p.Asn2314Thr",
"transcript": "NM_001375310.1",
"protein_id": "NP_001362239.1",
"transcript_support_level": null,
"aa_start": 2314,
"aa_end": null,
"aa_length": 2506,
"cds_start": 6941,
"cds_end": null,
"cds_length": 7521,
"cdna_start": 7054,
"cdna_end": null,
"cdna_length": 7962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6941A>C",
"hgvs_p": "p.Asn2314Thr",
"transcript": "ENST00000704202.1",
"protein_id": "ENSP00000515764.1",
"transcript_support_level": null,
"aa_start": 2314,
"aa_end": null,
"aa_length": 2506,
"cds_start": 6941,
"cds_end": null,
"cds_length": 7521,
"cdna_start": 7051,
"cdna_end": null,
"cdna_length": 7907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6917A>C",
"hgvs_p": "p.Asn2306Thr",
"transcript": "NM_001363759.2",
"protein_id": "NP_001350688.1",
"transcript_support_level": null,
"aa_start": 2306,
"aa_end": null,
"aa_length": 2498,
"cds_start": 6917,
"cds_end": null,
"cds_length": 7497,
"cdna_start": 7030,
"cdna_end": null,
"cdna_length": 7938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6917A>C",
"hgvs_p": "p.Asn2306Thr",
"transcript": "ENST00000630866.2",
"protein_id": "ENSP00000487444.1",
"transcript_support_level": 5,
"aa_start": 2306,
"aa_end": null,
"aa_length": 2498,
"cds_start": 6917,
"cds_end": null,
"cds_length": 7497,
"cdna_start": 7027,
"cdna_end": null,
"cdna_length": 7672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6902A>C",
"hgvs_p": "p.Asn2301Thr",
"transcript": "NM_001438445.1",
"protein_id": "NP_001425374.1",
"transcript_support_level": null,
"aa_start": 2301,
"aa_end": null,
"aa_length": 2493,
"cds_start": 6902,
"cds_end": null,
"cds_length": 7482,
"cdna_start": 7015,
"cdna_end": null,
"cdna_length": 7923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6890A>C",
"hgvs_p": "p.Asn2297Thr",
"transcript": "NM_001375312.2",
"protein_id": "NP_001362241.2",
"transcript_support_level": null,
"aa_start": 2297,
"aa_end": null,
"aa_length": 2489,
"cds_start": 6890,
"cds_end": null,
"cds_length": 7470,
"cdna_start": 7633,
"cdna_end": null,
"cdna_length": 8541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6890A>C",
"hgvs_p": "p.Asn2297Thr",
"transcript": "NM_001438440.1",
"protein_id": "NP_001425369.1",
"transcript_support_level": null,
"aa_start": 2297,
"aa_end": null,
"aa_length": 2489,
"cds_start": 6890,
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"cdna_start": 7018,
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"cdna_length": 7926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6890A>C",
"hgvs_p": "p.Asn2297Thr",
"transcript": "ENST00000627441.3",
"protein_id": "ENSP00000486547.2",
"transcript_support_level": 2,
"aa_start": 2297,
"aa_end": null,
"aa_length": 2489,
"cds_start": 6890,
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"cdna_start": 7015,
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"cdna_length": 7858,
"mane_select": null,
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"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
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"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6890A>C",
"hgvs_p": "p.Asn2297Thr",
"transcript": "ENST00000704203.1",
"protein_id": "ENSP00000515765.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6854A>C",
"hgvs_p": "p.Asn2285Thr",
"transcript": "NM_001375311.2",
"protein_id": "NP_001362240.1",
"transcript_support_level": null,
"aa_start": 2285,
"aa_end": null,
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"cds_start": 6854,
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"cdna_start": 7582,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
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"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6854A>C",
"hgvs_p": "p.Asn2285Thr",
"transcript": "ENST00000706487.1",
"protein_id": "ENSP00000516412.1",
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6842A>C",
"hgvs_p": "p.Asn2281Thr",
"transcript": "NM_001438444.1",
"protein_id": "NP_001425373.1",
"transcript_support_level": null,
"aa_start": 2281,
"aa_end": null,
"aa_length": 2473,
"cds_start": 6842,
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"cdna_start": 6955,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6839A>C",
"hgvs_p": "p.Asn2280Thr",
"transcript": "NM_003127.4",
"protein_id": "NP_003118.2",
"transcript_support_level": null,
"aa_start": 2280,
"aa_end": null,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6836A>C",
"hgvs_p": "p.Asn2279Thr",
"transcript": "NM_001375313.1",
"protein_id": "NP_001362242.1",
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"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6821A>C",
"hgvs_p": "p.Asn2274Thr",
"transcript": "NM_001438443.1",
"protein_id": "NP_001425372.1",
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"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6794A>C",
"hgvs_p": "p.Asn2265Thr",
"transcript": "NM_001363765.2",
"protein_id": "NP_001350694.1",
"transcript_support_level": null,
"aa_start": 2265,
"aa_end": null,
"aa_length": 2457,
"cds_start": 6794,
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"cdna_start": 6907,
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"cdna_length": 7815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6794A>C",
"hgvs_p": "p.Asn2265Thr",
"transcript": "NM_001375314.2",
"protein_id": "NP_001362243.1",
"transcript_support_level": null,
"aa_start": 2265,
"aa_end": null,
"aa_length": 2457,
"cds_start": 6794,
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"cdna_start": 7522,
"cdna_end": null,
"cdna_length": 8430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
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"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 100,
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"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"dbsnp": "rs1441152520",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8215258121490479,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.442,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9896,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.936,
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM5,PP3",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PM5",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000372739.7",
"gene_symbol": "SPTAN1",
"hgnc_id": 11273,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.6854A>C",
"hgvs_p": "p.Asn2285Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}