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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: 10-100913248-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=100913248&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 100913248,
"ref": "C",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001136123.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLF2",
"gene_hgnc_id": 17814,
"hgvs_c": "c.138C>G",
"hgvs_p": "p.Asp46Glu",
"transcript": "NM_018121.4",
"protein_id": "NP_060591.3",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 1173,
"cds_start": 138,
"cds_end": null,
"cds_length": 3522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000238961.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018121.4"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLF2",
"gene_hgnc_id": 17814,
"hgvs_c": "c.138C>G",
"hgvs_p": "p.Asp46Glu",
"transcript": "ENST00000238961.9",
"protein_id": "ENSP00000238961.3",
"transcript_support_level": 1,
"aa_start": 46,
"aa_end": null,
"aa_length": 1173,
"cds_start": 138,
"cds_end": null,
"cds_length": 3522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018121.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000238961.9"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLF2",
"gene_hgnc_id": 17814,
"hgvs_c": "c.138C>G",
"hgvs_p": "p.Asp46Glu",
"transcript": "ENST00000370269.3",
"protein_id": "ENSP00000359292.3",
"transcript_support_level": 1,
"aa_start": 46,
"aa_end": null,
"aa_length": 1186,
"cds_start": 138,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370269.3"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLF2",
"gene_hgnc_id": 17814,
"hgvs_c": "c.138C>G",
"hgvs_p": "p.Asp46Glu",
"transcript": "ENST00000370271.7",
"protein_id": "ENSP00000359294.3",
"transcript_support_level": 1,
"aa_start": 46,
"aa_end": null,
"aa_length": 758,
"cds_start": 138,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370271.7"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLF2",
"gene_hgnc_id": 17814,
"hgvs_c": "c.138C>G",
"hgvs_p": "p.Asp46Glu",
"transcript": "NM_001243770.2",
"protein_id": "NP_001230699.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 63,
"cds_start": 138,
"cds_end": null,
"cds_length": 192,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243770.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLF2",
"gene_hgnc_id": 17814,
"hgvs_c": "c.138C>G",
"hgvs_p": "p.Asp46Glu",
"transcript": "ENST00000609386.1",
"protein_id": "ENSP00000476379.1",
"transcript_support_level": 6,
"aa_start": 46,
"aa_end": null,
"aa_length": 63,
"cds_start": 138,
"cds_end": null,
"cds_length": 192,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000609386.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLF2",
"gene_hgnc_id": 17814,
"hgvs_c": "c.138C>G",
"hgvs_p": "p.Asp46Glu",
"transcript": "NM_001136123.2",
"protein_id": "NP_001129595.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 1186,
"cds_start": 138,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136123.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLF2",
"gene_hgnc_id": 17814,
"hgvs_c": "c.138C>G",
"hgvs_p": "p.Asp46Glu",
"transcript": "ENST00000855461.1",
"protein_id": "ENSP00000525520.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 1172,
"cds_start": 138,
"cds_end": null,
"cds_length": 3519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855461.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLF2",
"gene_hgnc_id": 17814,
"hgvs_c": "c.138C>G",
"hgvs_p": "p.Asp46Glu",
"transcript": "ENST00000931249.1",
"protein_id": "ENSP00000601308.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 1147,
"cds_start": 138,
"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": "ENST00000931249.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLF2",
"gene_hgnc_id": 17814,
"hgvs_c": "c.138C>G",
"hgvs_p": "p.Asp46Glu",
"transcript": "ENST00000855462.1",
"protein_id": "ENSP00000525521.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 1144,
"cds_start": 138,
"cds_end": null,
"cds_length": 3435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855462.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLF2",
"gene_hgnc_id": 17814,
"hgvs_c": "c.138C>G",
"hgvs_p": "p.Asp46Glu",
"transcript": "ENST00000931250.1",
"protein_id": "ENSP00000601309.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 1129,
"cds_start": 138,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931250.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLF2",
"gene_hgnc_id": 17814,
"hgvs_c": "c.138C>G",
"hgvs_p": "p.Asp46Glu",
"transcript": "ENST00000855463.1",
"protein_id": "ENSP00000525522.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 1114,
"cds_start": 138,
"cds_end": null,
"cds_length": 3345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855463.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLF2",
"gene_hgnc_id": 17814,
"hgvs_c": "c.138C>G",
"hgvs_p": "p.Asp46Glu",
"transcript": "ENST00000855465.1",
"protein_id": "ENSP00000525524.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 843,
"cds_start": 138,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855465.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLF2",
"gene_hgnc_id": 17814,
"hgvs_c": "c.138C>G",
"hgvs_p": "p.Asp46Glu",
"transcript": "ENST00000855464.1",
"protein_id": "ENSP00000525523.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 539,
"cds_start": 138,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855464.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLF2",
"gene_hgnc_id": 17814,
"hgvs_c": "c.138C>G",
"hgvs_p": "p.Asp46Glu",
"transcript": "XM_005269965.3",
"protein_id": "XP_005270022.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 1172,
"cds_start": 138,
"cds_end": null,
"cds_length": 3519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005269965.3"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLF2",
"gene_hgnc_id": 17814,
"hgvs_c": "c.138C>G",
"hgvs_p": "p.Asp46Glu",
"transcript": "XM_047425463.1",
"protein_id": "XP_047281419.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 823,
"cds_start": 138,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425463.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLF2",
"gene_hgnc_id": 17814,
"hgvs_c": "c.-306C>G",
"hgvs_p": null,
"transcript": "XM_011539944.4",
"protein_id": "XP_011538246.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1109,
"cds_start": null,
"cds_end": null,
"cds_length": 3330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539944.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLF2",
"gene_hgnc_id": 17814,
"hgvs_c": "c.-1874C>G",
"hgvs_p": null,
"transcript": "XM_047425461.1",
"protein_id": "XP_047281417.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1109,
"cds_start": null,
"cds_end": null,
"cds_length": 3330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425461.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLF2",
"gene_hgnc_id": 17814,
"hgvs_c": "c.-1874C>G",
"hgvs_p": null,
"transcript": "XM_047425462.1",
"protein_id": "XP_047281418.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1108,
"cds_start": null,
"cds_end": null,
"cds_length": 3327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425462.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLF2",
"gene_hgnc_id": 17814,
"hgvs_c": "n.138C>G",
"hgvs_p": null,
"transcript": "ENST00000649226.1",
"protein_id": "ENSP00000496951.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000649226.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000272572",
"gene_hgnc_id": null,
"hgvs_c": "n.108G>C",
"hgvs_p": null,
"transcript": "ENST00000726806.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000726806.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "ENSG00000272572",
"gene_hgnc_id": null,
"hgvs_c": "n.117+7G>C",
"hgvs_p": null,
"transcript": "ENST00000726805.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000726805.1"
}
],
"gene_symbol": "SLF2",
"gene_hgnc_id": 17814,
"dbsnp": "rs1849352516",
"frequency_reference_population": 6.883895e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.88389e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.24739432334899902,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.1899999976158142,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.269,
"revel_prediction": "Benign",
"alphamissense_score": 0.198,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.265,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.19,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001136123.2",
"gene_symbol": "SLF2",
"hgnc_id": 17814,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.138C>G",
"hgvs_p": "p.Asp46Glu"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000726805.1",
"gene_symbol": "ENSG00000272572",
"hgnc_id": null,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.117+7G>C",
"hgvs_p": null
}
],
"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
}