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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: 8-118439862-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=118439862&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 118439862,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_207506.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD12",
"gene_hgnc_id": 31750,
"hgvs_c": "c.292A>C",
"hgvs_p": "p.Ser98Arg",
"transcript": "NM_207506.3",
"protein_id": "NP_997389.2",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 201,
"cds_start": 292,
"cds_end": null,
"cds_length": 606,
"cdna_start": 439,
"cdna_end": null,
"cdna_length": 2186,
"mane_select": "ENST00000314727.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_207506.3"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD12",
"gene_hgnc_id": 31750,
"hgvs_c": "c.292A>C",
"hgvs_p": "p.Ser98Arg",
"transcript": "ENST00000314727.9",
"protein_id": "ENSP00000314173.4",
"transcript_support_level": 1,
"aa_start": 98,
"aa_end": null,
"aa_length": 201,
"cds_start": 292,
"cds_end": null,
"cds_length": 606,
"cdna_start": 439,
"cdna_end": null,
"cdna_length": 2186,
"mane_select": "NM_207506.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000314727.9"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD12",
"gene_hgnc_id": 31750,
"hgvs_c": "n.414A>C",
"hgvs_p": null,
"transcript": "ENST00000526328.6",
"protein_id": null,
"transcript_support_level": 1,
"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": 910,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000526328.6"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD12",
"gene_hgnc_id": 31750,
"hgvs_c": "c.292A>C",
"hgvs_p": "p.Ser98Arg",
"transcript": "NM_001101676.2",
"protein_id": "NP_001095146.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 161,
"cds_start": 292,
"cds_end": null,
"cds_length": 486,
"cdna_start": 439,
"cdna_end": null,
"cdna_length": 8875,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001101676.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD12",
"gene_hgnc_id": 31750,
"hgvs_c": "c.292A>C",
"hgvs_p": "p.Ser98Arg",
"transcript": "ENST00000524796.6",
"protein_id": "ENSP00000435927.2",
"transcript_support_level": 3,
"aa_start": 98,
"aa_end": null,
"aa_length": 161,
"cds_start": 292,
"cds_end": null,
"cds_length": 486,
"cdna_start": 425,
"cdna_end": null,
"cdna_length": 782,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524796.6"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD12",
"gene_hgnc_id": 31750,
"hgvs_c": "c.292A>C",
"hgvs_p": "p.Ser98Arg",
"transcript": "NM_001363274.2",
"protein_id": "NP_001350203.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 156,
"cds_start": 292,
"cds_end": null,
"cds_length": 471,
"cdna_start": 439,
"cdna_end": null,
"cdna_length": 1111,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363274.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD12",
"gene_hgnc_id": 31750,
"hgvs_c": "c.292A>C",
"hgvs_p": "p.Ser98Arg",
"transcript": "XM_047421779.1",
"protein_id": "XP_047277735.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 176,
"cds_start": 292,
"cds_end": null,
"cds_length": 531,
"cdna_start": 439,
"cdna_end": null,
"cdna_length": 7010,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421779.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD12",
"gene_hgnc_id": 31750,
"hgvs_c": "c.292A>C",
"hgvs_p": "p.Ser98Arg",
"transcript": "XM_047421780.1",
"protein_id": "XP_047277736.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 174,
"cds_start": 292,
"cds_end": null,
"cds_length": 525,
"cdna_start": 439,
"cdna_end": null,
"cdna_length": 903,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421780.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD12",
"gene_hgnc_id": 31750,
"hgvs_c": "c.292A>C",
"hgvs_p": "p.Ser98Arg",
"transcript": "XM_047421781.1",
"protein_id": "XP_047277737.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 158,
"cds_start": 292,
"cds_end": null,
"cds_length": 477,
"cdna_start": 439,
"cdna_end": null,
"cdna_length": 767,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421781.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD12",
"gene_hgnc_id": 31750,
"hgvs_c": "c.292A>C",
"hgvs_p": "p.Arg98Arg",
"transcript": "ENST00000964565.1",
"protein_id": "ENSP00000634624.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 191,
"cds_start": 292,
"cds_end": null,
"cds_length": 576,
"cdna_start": 388,
"cdna_end": null,
"cdna_length": 2039,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964565.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD12",
"gene_hgnc_id": 31750,
"hgvs_c": "c.292A>C",
"hgvs_p": "p.Arg98Arg",
"transcript": "NM_001349811.2",
"protein_id": "NP_001336740.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 151,
"cds_start": 292,
"cds_end": null,
"cds_length": 456,
"cdna_start": 439,
"cdna_end": null,
"cdna_length": 8845,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349811.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD12",
"gene_hgnc_id": 31750,
"hgvs_c": "c.292A>C",
"hgvs_p": "p.Arg98Arg",
"transcript": "ENST00000409003.5",
"protein_id": "ENSP00000387133.5",
"transcript_support_level": 5,
"aa_start": 98,
"aa_end": null,
"aa_length": 151,
"cds_start": 292,
"cds_end": null,
"cds_length": 456,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 8809,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409003.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD12",
"gene_hgnc_id": 31750,
"hgvs_c": "c.292A>C",
"hgvs_p": "p.Arg98Arg",
"transcript": "XM_047421778.1",
"protein_id": "XP_047277734.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 191,
"cds_start": 292,
"cds_end": null,
"cds_length": 576,
"cdna_start": 439,
"cdna_end": null,
"cdna_length": 2156,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421778.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD12",
"gene_hgnc_id": 31750,
"hgvs_c": "n.453A>C",
"hgvs_p": null,
"transcript": "ENST00000526765.6",
"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": 780,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000526765.6"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD12",
"gene_hgnc_id": 31750,
"hgvs_c": "n.316A>C",
"hgvs_p": null,
"transcript": "ENST00000649198.1",
"protein_id": null,
"transcript_support_level": null,
"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": 780,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000649198.1"
},
{
"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": "SAMD12",
"gene_hgnc_id": 31750,
"hgvs_c": "n.443A>C",
"hgvs_p": null,
"transcript": "ENST00000649630.1",
"protein_id": null,
"transcript_support_level": null,
"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": 879,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000649630.1"
},
{
"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": "SAMD12",
"gene_hgnc_id": 31750,
"hgvs_c": "n.279A>C",
"hgvs_p": null,
"transcript": "NR_109794.3",
"protein_id": null,
"transcript_support_level": null,
"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": 8715,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_109794.3"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD12",
"gene_hgnc_id": 31750,
"hgvs_c": "n.439A>C",
"hgvs_p": null,
"transcript": "NR_146234.2",
"protein_id": null,
"transcript_support_level": null,
"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": 1435,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_146234.2"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD12",
"gene_hgnc_id": 31750,
"hgvs_c": "n.439A>C",
"hgvs_p": null,
"transcript": "XR_007060732.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2401,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007060732.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD12",
"gene_hgnc_id": 31750,
"hgvs_c": "n.439A>C",
"hgvs_p": null,
"transcript": "XR_007060733.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2282,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007060733.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SAMD12",
"gene_hgnc_id": 31750,
"hgvs_c": "n.193-60162A>C",
"hgvs_p": null,
"transcript": "ENST00000445741.6",
"protein_id": "ENSP00000387605.1",
"transcript_support_level": 3,
"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": 1459,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000445741.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD12",
"gene_hgnc_id": 31750,
"hgvs_c": "n.-1A>C",
"hgvs_p": null,
"transcript": "ENST00000453675.7",
"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": 978,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000453675.7"
}
],
"gene_symbol": "SAMD12",
"gene_hgnc_id": 31750,
"dbsnp": "rs763629042",
"frequency_reference_population": 0.000013014265,
"hom_count_reference_population": 0,
"allele_count_reference_population": 21,
"gnomad_exomes_af": 0.0000130023,
"gnomad_genomes_af": 0.0000131294,
"gnomad_exomes_ac": 19,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7706568241119385,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.603,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9174,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.19,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.673,
"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": "Likely_benign",
"acmg_criteria": "PP3,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 4,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_207506.3",
"gene_symbol": "SAMD12",
"hgnc_id": 31750,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,SD",
"hgvs_c": "c.292A>C",
"hgvs_p": "p.Ser98Arg"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}