← 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: 1-179121809-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=179121809&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 179121809,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000502732.6",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABL2",
"gene_hgnc_id": 77,
"hgvs_c": "c.746C>T",
"hgvs_p": "p.Ser249Phe",
"transcript": "NM_007314.4",
"protein_id": "NP_009298.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 1182,
"cds_start": 746,
"cds_end": null,
"cds_length": 3549,
"cdna_start": 1026,
"cdna_end": null,
"cdna_length": 12217,
"mane_select": "ENST00000502732.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABL2",
"gene_hgnc_id": 77,
"hgvs_c": "c.746C>T",
"hgvs_p": "p.Ser249Phe",
"transcript": "ENST00000502732.6",
"protein_id": "ENSP00000427562.1",
"transcript_support_level": 1,
"aa_start": 249,
"aa_end": null,
"aa_length": 1182,
"cds_start": 746,
"cds_end": null,
"cds_length": 3549,
"cdna_start": 1026,
"cdna_end": null,
"cdna_length": 12217,
"mane_select": "NM_007314.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABL2",
"gene_hgnc_id": 77,
"hgvs_c": "c.701C>T",
"hgvs_p": "p.Ser234Phe",
"transcript": "ENST00000512653.5",
"protein_id": "ENSP00000423578.1",
"transcript_support_level": 1,
"aa_start": 234,
"aa_end": null,
"aa_length": 1167,
"cds_start": 701,
"cds_end": null,
"cds_length": 3504,
"cdna_start": 713,
"cdna_end": null,
"cdna_length": 3635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABL2",
"gene_hgnc_id": 77,
"hgvs_c": "c.683C>T",
"hgvs_p": "p.Ser228Phe",
"transcript": "ENST00000367623.8",
"protein_id": "ENSP00000356595.4",
"transcript_support_level": 1,
"aa_start": 228,
"aa_end": null,
"aa_length": 1161,
"cds_start": 683,
"cds_end": null,
"cds_length": 3486,
"cdna_start": 683,
"cdna_end": null,
"cdna_length": 3486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABL2",
"gene_hgnc_id": 77,
"hgvs_c": "c.746C>T",
"hgvs_p": "p.Ser249Phe",
"transcript": "ENST00000511413.5",
"protein_id": "ENSP00000424697.1",
"transcript_support_level": 1,
"aa_start": 249,
"aa_end": null,
"aa_length": 1079,
"cds_start": 746,
"cds_end": null,
"cds_length": 3240,
"cdna_start": 746,
"cdna_end": null,
"cdna_length": 3240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABL2",
"gene_hgnc_id": 77,
"hgvs_c": "c.701C>T",
"hgvs_p": "p.Ser234Phe",
"transcript": "ENST00000344730.8",
"protein_id": "ENSP00000339209.3",
"transcript_support_level": 1,
"aa_start": 234,
"aa_end": null,
"aa_length": 1064,
"cds_start": 701,
"cds_end": null,
"cds_length": 3195,
"cdna_start": 733,
"cdna_end": null,
"cdna_length": 11615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABL2",
"gene_hgnc_id": 77,
"hgvs_c": "c.683C>T",
"hgvs_p": "p.Ser228Phe",
"transcript": "ENST00000507173.5",
"protein_id": "ENSP00000423413.1",
"transcript_support_level": 1,
"aa_start": 228,
"aa_end": null,
"aa_length": 1058,
"cds_start": 683,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 683,
"cdna_end": null,
"cdna_length": 3177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABL2",
"gene_hgnc_id": 77,
"hgvs_c": "c.638C>T",
"hgvs_p": "p.Ser213Phe",
"transcript": "ENST00000504405.5",
"protein_id": "ENSP00000426831.1",
"transcript_support_level": 1,
"aa_start": 213,
"aa_end": null,
"aa_length": 1043,
"cds_start": 638,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 638,
"cdna_end": null,
"cdna_length": 3132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABL2",
"gene_hgnc_id": 77,
"hgvs_c": "n.733C>T",
"hgvs_p": null,
"transcript": "ENST00000504324.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABL2",
"gene_hgnc_id": 77,
"hgvs_c": "n.663C>T",
"hgvs_p": null,
"transcript": "ENST00000509520.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABL2",
"gene_hgnc_id": 77,
"hgvs_c": "c.701C>T",
"hgvs_p": "p.Ser234Phe",
"transcript": "NM_005158.5",
"protein_id": "NP_005149.4",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 1167,
"cds_start": 701,
"cds_end": null,
"cds_length": 3504,
"cdna_start": 733,
"cdna_end": null,
"cdna_length": 11924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABL2",
"gene_hgnc_id": 77,
"hgvs_c": "c.683C>T",
"hgvs_p": "p.Ser228Phe",
"transcript": "NM_001168236.2",
"protein_id": "NP_001161708.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 1161,
"cds_start": 683,
"cds_end": null,
"cds_length": 3486,
"cdna_start": 963,
"cdna_end": null,
"cdna_length": 12154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABL2",
"gene_hgnc_id": 77,
"hgvs_c": "c.746C>T",
"hgvs_p": "p.Ser249Phe",
"transcript": "NM_001168237.2",
"protein_id": "NP_001161709.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 1079,
"cds_start": 746,
"cds_end": null,
"cds_length": 3240,
"cdna_start": 1026,
"cdna_end": null,
"cdna_length": 11908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABL2",
"gene_hgnc_id": 77,
"hgvs_c": "c.701C>T",
"hgvs_p": "p.Ser234Phe",
"transcript": "NM_001136000.3",
"protein_id": "NP_001129472.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 1064,
"cds_start": 701,
"cds_end": null,
"cds_length": 3195,
"cdna_start": 733,
"cdna_end": null,
"cdna_length": 11615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABL2",
"gene_hgnc_id": 77,
"hgvs_c": "c.683C>T",
"hgvs_p": "p.Ser228Phe",
"transcript": "NM_001168238.2",
"protein_id": "NP_001161710.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 1058,
"cds_start": 683,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 963,
"cdna_end": null,
"cdna_length": 11845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABL2",
"gene_hgnc_id": 77,
"hgvs_c": "c.638C>T",
"hgvs_p": "p.Ser213Phe",
"transcript": "NM_001168239.2",
"protein_id": "NP_001161711.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 1043,
"cds_start": 638,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 11552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABL2",
"gene_hgnc_id": 77,
"hgvs_c": "c.683C>T",
"hgvs_p": "p.Ser228Phe",
"transcript": "NM_001136001.2",
"protein_id": "NP_001129473.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 542,
"cds_start": 683,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 963,
"cdna_end": null,
"cdna_length": 2133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABL2",
"gene_hgnc_id": 77,
"hgvs_c": "c.746C>T",
"hgvs_p": "p.Ser249Phe",
"transcript": "XM_017001035.2",
"protein_id": "XP_016856524.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 1182,
"cds_start": 746,
"cds_end": null,
"cds_length": 3549,
"cdna_start": 5407,
"cdna_end": null,
"cdna_length": 16598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABL2",
"gene_hgnc_id": 77,
"hgvs_c": "c.638C>T",
"hgvs_p": "p.Ser213Phe",
"transcript": "XM_005245088.3",
"protein_id": "XP_005245145.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 1146,
"cds_start": 638,
"cds_end": null,
"cds_length": 3441,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 11861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABL2",
"gene_hgnc_id": 77,
"hgvs_c": "n.970C>T",
"hgvs_p": null,
"transcript": "ENST00000668691.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABL2",
"gene_hgnc_id": 77,
"hgvs_c": "n.1026C>T",
"hgvs_p": null,
"transcript": "XR_007058798.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABL2",
"gene_hgnc_id": 77,
"hgvs_c": "n.1026C>T",
"hgvs_p": null,
"transcript": "XR_921764.4",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABL2",
"gene_hgnc_id": 77,
"hgvs_c": "n.963C>T",
"hgvs_p": null,
"transcript": "XR_921765.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ABL2",
"gene_hgnc_id": 77,
"dbsnp": "rs766804361",
"frequency_reference_population": 0.000014365536,
"hom_count_reference_population": 0,
"allele_count_reference_population": 21,
"gnomad_exomes_af": 0.0000143655,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 21,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8504148125648499,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.546,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9987,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.19,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.904,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3_Moderate,BS2",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000502732.6",
"gene_symbol": "ABL2",
"hgnc_id": 77,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.746C>T",
"hgvs_p": "p.Ser249Phe"
}
],
"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
}