← 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: 2-74222931-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=74222931&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC4A5",
"hgnc_id": 18168,
"hgvs_c": "c.3316G>T",
"hgvs_p": "p.Val1106Phe",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_021196.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000264324",
"hgnc_id": null,
"hgvs_c": "n.*3920G>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "ENST00000451608.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.1138,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.07,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.26866644620895386,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1121,
"aa_ref": "V",
"aa_start": 1090,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6357,
"cdna_start": 3675,
"cds_end": null,
"cds_length": 3366,
"cds_start": 3268,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "NM_133478.3",
"gene_hgnc_id": 18168,
"gene_symbol": "SLC4A5",
"hgvs_c": "c.3268G>T",
"hgvs_p": "p.Val1090Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000394019.7",
"protein_coding": true,
"protein_id": "NP_597812.1",
"strand": false,
"transcript": "NM_133478.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1121,
"aa_ref": "V",
"aa_start": 1090,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6357,
"cdna_start": 3675,
"cds_end": null,
"cds_length": 3366,
"cds_start": 3268,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000394019.7",
"gene_hgnc_id": 18168,
"gene_symbol": "SLC4A5",
"hgvs_c": "c.3268G>T",
"hgvs_p": "p.Val1090Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_133478.3",
"protein_coding": true,
"protein_id": "ENSP00000377587.2",
"strand": false,
"transcript": "ENST00000394019.7",
"transcript_support_level": 5
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1040,
"aa_ref": "V",
"aa_start": 1009,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3123,
"cdna_start": 3025,
"cds_end": null,
"cds_length": 3123,
"cds_start": 3025,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000377632.5",
"gene_hgnc_id": 18168,
"gene_symbol": "SLC4A5",
"hgvs_c": "c.3025G>T",
"hgvs_p": "p.Val1009Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000366859.1",
"strand": false,
"transcript": "ENST00000377632.5",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "V",
"aa_start": 988,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3142,
"cdna_start": 3011,
"cds_end": null,
"cds_length": 3060,
"cds_start": 2962,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000358683.8",
"gene_hgnc_id": 18168,
"gene_symbol": "SLC4A5",
"hgvs_c": "c.2962G>T",
"hgvs_p": "p.Val988Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000351513.4",
"strand": false,
"transcript": "ENST00000358683.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 5059,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 39,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000451608.2",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000264324",
"hgvs_c": "n.*3920G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000416453.2",
"strand": false,
"transcript": "ENST00000451608.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 5059,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 39,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000451608.2",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000264324",
"hgvs_c": "n.*3920G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000416453.2",
"strand": false,
"transcript": "ENST00000451608.2",
"transcript_support_level": 5
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1137,
"aa_ref": "V",
"aa_start": 1106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3449,
"cdna_start": 3318,
"cds_end": null,
"cds_length": 3414,
"cds_start": 3316,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_021196.3",
"gene_hgnc_id": 18168,
"gene_symbol": "SLC4A5",
"hgvs_c": "c.3316G>T",
"hgvs_p": "p.Val1106Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_067019.3",
"strand": false,
"transcript": "NM_021196.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1137,
"aa_ref": "V",
"aa_start": 1106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6233,
"cdna_start": 3552,
"cds_end": null,
"cds_length": 3414,
"cds_start": 3316,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000346834.8",
"gene_hgnc_id": 18168,
"gene_symbol": "SLC4A5",
"hgvs_c": "c.3316G>T",
"hgvs_p": "p.Val1106Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000251768.7",
"strand": false,
"transcript": "ENST00000346834.8",
"transcript_support_level": 5
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1137,
"aa_ref": "V",
"aa_start": 1106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3814,
"cdna_start": 3716,
"cds_end": null,
"cds_length": 3414,
"cds_start": 3316,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000377634.8",
"gene_hgnc_id": 18168,
"gene_symbol": "SLC4A5",
"hgvs_c": "c.3316G>T",
"hgvs_p": "p.Val1106Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000366861.4",
"strand": false,
"transcript": "ENST00000377634.8",
"transcript_support_level": 5
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1121,
"aa_ref": "V",
"aa_start": 1090,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6185,
"cdna_start": 3504,
"cds_end": null,
"cds_length": 3366,
"cds_start": 3268,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000423644.5",
"gene_hgnc_id": 18168,
"gene_symbol": "SLC4A5",
"hgvs_c": "c.3268G>T",
"hgvs_p": "p.Val1090Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000395804.2",
"strand": false,
"transcript": "ENST00000423644.5",
"transcript_support_level": 5
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1121,
"aa_ref": "V",
"aa_start": 1090,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6116,
"cdna_start": 3437,
"cds_end": null,
"cds_length": 3366,
"cds_start": 3268,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000964339.1",
"gene_hgnc_id": 18168,
"gene_symbol": "SLC4A5",
"hgvs_c": "c.3268G>T",
"hgvs_p": "p.Val1090Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634398.1",
"strand": false,
"transcript": "ENST00000964339.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1005,
"aa_ref": "V",
"aa_start": 974,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5784,
"cdna_start": 3102,
"cds_end": null,
"cds_length": 3018,
"cds_start": 2920,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001386136.1",
"gene_hgnc_id": 18168,
"gene_symbol": "SLC4A5",
"hgvs_c": "c.2920G>T",
"hgvs_p": "p.Val974Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373065.1",
"strand": false,
"transcript": "NM_001386136.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 70,
"aa_ref": "V",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 714,
"cdna_start": 116,
"cds_end": null,
"cds_length": 213,
"cds_start": 115,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000480696.1",
"gene_hgnc_id": 18168,
"gene_symbol": "SLC4A5",
"hgvs_c": "c.115G>T",
"hgvs_p": "p.Val39Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490265.1",
"strand": false,
"transcript": "ENST00000480696.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 210,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 649,
"cdna_start": null,
"cds_end": null,
"cds_length": 633,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000637036.1",
"gene_hgnc_id": 18168,
"gene_symbol": "SLC4A5",
"hgvs_c": "c.400-1430G>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490698.1",
"strand": false,
"transcript": "ENST00000637036.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3304,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000425249.6",
"gene_hgnc_id": 18168,
"gene_symbol": "SLC4A5",
"hgvs_c": "n.2991G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000405678.2",
"strand": false,
"transcript": "ENST00000425249.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 6576,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000483195.5",
"gene_hgnc_id": 18168,
"gene_symbol": "SLC4A5",
"hgvs_c": "n.3894G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000483195.5",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs36081793",
"effect": "missense_variant",
"frequency_reference_population": 6.848133e-7,
"gene_hgnc_id": 18168,
"gene_symbol": "SLC4A5",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84813e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.601,
"pos": 74222931,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.448,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.1899999976158142,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.19,
"transcript": "NM_021196.3"
}
]
}