← Back to variant description
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: 8-19364147-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=19364147&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 19364147,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_022071.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D4A",
"gene_hgnc_id": 26102,
"hgvs_c": "c.782C>T",
"hgvs_p": "p.Ser261Phe",
"transcript": "NM_022071.4",
"protein_id": "NP_071354.2",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 454,
"cds_start": 782,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265807.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022071.4"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D4A",
"gene_hgnc_id": 26102,
"hgvs_c": "c.782C>T",
"hgvs_p": "p.Ser261Phe",
"transcript": "ENST00000265807.8",
"protein_id": "ENSP00000265807.3",
"transcript_support_level": 2,
"aa_start": 261,
"aa_end": null,
"aa_length": 454,
"cds_start": 782,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022071.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265807.8"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D4A",
"gene_hgnc_id": 26102,
"hgvs_c": "c.782C>T",
"hgvs_p": "p.Ser261Phe",
"transcript": "ENST00000519207.5",
"protein_id": "ENSP00000428684.1",
"transcript_support_level": 1,
"aa_start": 261,
"aa_end": null,
"aa_length": 454,
"cds_start": 782,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519207.5"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D4A",
"gene_hgnc_id": 26102,
"hgvs_c": "c.782C>T",
"hgvs_p": "p.Ser261Phe",
"transcript": "NM_001174159.2",
"protein_id": "NP_001167630.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 454,
"cds_start": 782,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001174159.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D4A",
"gene_hgnc_id": 26102,
"hgvs_c": "c.782C>T",
"hgvs_p": "p.Ser261Phe",
"transcript": "ENST00000962928.1",
"protein_id": "ENSP00000632987.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 454,
"cds_start": 782,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962928.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D4A",
"gene_hgnc_id": 26102,
"hgvs_c": "c.779C>T",
"hgvs_p": "p.Ser260Phe",
"transcript": "ENST00000903943.1",
"protein_id": "ENSP00000574002.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 453,
"cds_start": 779,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903943.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D4A",
"gene_hgnc_id": 26102,
"hgvs_c": "c.701C>T",
"hgvs_p": "p.Ser234Phe",
"transcript": "NM_001363110.2",
"protein_id": "NP_001350039.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 427,
"cds_start": 701,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363110.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D4A",
"gene_hgnc_id": 26102,
"hgvs_c": "c.701C>T",
"hgvs_p": "p.Ser234Phe",
"transcript": "NM_001363111.2",
"protein_id": "NP_001350040.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 427,
"cds_start": 701,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363111.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D4A",
"gene_hgnc_id": 26102,
"hgvs_c": "c.698C>T",
"hgvs_p": "p.Ser233Phe",
"transcript": "ENST00000903942.1",
"protein_id": "ENSP00000574001.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 426,
"cds_start": 698,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903942.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D4A",
"gene_hgnc_id": 26102,
"hgvs_c": "c.647C>T",
"hgvs_p": "p.Ser216Phe",
"transcript": "NM_001174160.2",
"protein_id": "NP_001167631.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 409,
"cds_start": 647,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001174160.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D4A",
"gene_hgnc_id": 26102,
"hgvs_c": "c.647C>T",
"hgvs_p": "p.Ser216Phe",
"transcript": "ENST00000518040.5",
"protein_id": "ENSP00000429482.1",
"transcript_support_level": 2,
"aa_start": 216,
"aa_end": null,
"aa_length": 409,
"cds_start": 647,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518040.5"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D4A",
"gene_hgnc_id": 26102,
"hgvs_c": "c.782C>T",
"hgvs_p": "p.Ser261Phe",
"transcript": "XM_047422079.1",
"protein_id": "XP_047278035.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 314,
"cds_start": 782,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422079.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "SH2D4A",
"gene_hgnc_id": 26102,
"hgvs_c": "c.701C>T",
"hgvs_p": "p.Ser234Phe",
"transcript": "XM_047422080.1",
"protein_id": "XP_047278036.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 287,
"cds_start": 701,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422080.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "SH2D4A",
"gene_hgnc_id": 26102,
"hgvs_c": "n.339C>T",
"hgvs_p": null,
"transcript": "ENST00000522328.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000522328.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D4A",
"gene_hgnc_id": 26102,
"hgvs_c": "n.1117C>T",
"hgvs_p": null,
"transcript": "NR_156444.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_156444.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D4A",
"gene_hgnc_id": 26102,
"hgvs_c": "n.*48C>T",
"hgvs_p": null,
"transcript": "ENST00000518093.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "retained_intron",
"feature": "ENST00000518093.1"
}
],
"gene_symbol": "SH2D4A",
"gene_hgnc_id": 26102,
"dbsnp": "rs1296601522",
"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": 0.7425902485847473,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.279,
"revel_prediction": "Benign",
"alphamissense_score": 0.3262,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.526,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.04,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_022071.4",
"gene_symbol": "SH2D4A",
"hgnc_id": 26102,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.782C>T",
"hgvs_p": "p.Ser261Phe"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}