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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: 4-71557709-C-CA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=71557709&ref=C&alt=CA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 71557709,
"ref": "C",
"alt": "CA",
"effect": "splice_acceptor_variant,intron_variant",
"transcript": "ENST00000264485.11",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "SLC4A4",
"gene_hgnc_id": 11030,
"hgvs_c": "c.2764-2dupA",
"hgvs_p": null,
"transcript": "NM_001098484.3",
"protein_id": "NP_001091954.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1079,
"cds_start": -4,
"cds_end": null,
"cds_length": 3240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7716,
"mane_select": "ENST00000264485.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "SLC4A4",
"gene_hgnc_id": 11030,
"hgvs_c": "c.2764-2dupA",
"hgvs_p": null,
"transcript": "ENST00000264485.11",
"protein_id": "ENSP00000264485.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1079,
"cds_start": -4,
"cds_end": null,
"cds_length": 3240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7716,
"mane_select": "NM_001098484.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "SLC4A4",
"gene_hgnc_id": 11030,
"hgvs_c": "c.2632-2dupA",
"hgvs_p": null,
"transcript": "NM_003759.4",
"protein_id": "NP_003750.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1035,
"cds_start": -4,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7669,
"mane_select": null,
"mane_plus": "ENST00000340595.4",
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "SLC4A4",
"gene_hgnc_id": 11030,
"hgvs_c": "c.2632-2dupA",
"hgvs_p": null,
"transcript": "ENST00000340595.4",
"protein_id": "ENSP00000344272.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1035,
"cds_start": -4,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7669,
"mane_select": null,
"mane_plus": "NM_003759.4",
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "SLC4A4",
"gene_hgnc_id": 11030,
"hgvs_c": "c.2512-2dupA",
"hgvs_p": null,
"transcript": "ENST00000351898.10",
"protein_id": "ENSP00000307349.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 995,
"cds_start": -4,
"cds_end": null,
"cds_length": 2988,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "SLC4A4",
"gene_hgnc_id": 11030,
"hgvs_c": "c.2857-2dupA",
"hgvs_p": null,
"transcript": "NM_001440629.1",
"protein_id": "NP_001427558.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1110,
"cds_start": -4,
"cds_end": null,
"cds_length": 3333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "SLC4A4",
"gene_hgnc_id": 11030,
"hgvs_c": "c.2764-2dupA",
"hgvs_p": null,
"transcript": "NM_001134742.2",
"protein_id": "NP_001128214.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1094,
"cds_start": -4,
"cds_end": null,
"cds_length": 3285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "SLC4A4",
"gene_hgnc_id": 11030,
"hgvs_c": "c.2764-2dupA",
"hgvs_p": null,
"transcript": "ENST00000425175.5",
"protein_id": "ENSP00000393557.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1094,
"cds_start": -4,
"cds_end": null,
"cds_length": 3285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "SLC4A4",
"gene_hgnc_id": 11030,
"hgvs_c": "c.2779-2dupA",
"hgvs_p": null,
"transcript": "NM_001440628.1",
"protein_id": "NP_001427557.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1084,
"cds_start": -4,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "SLC4A4",
"gene_hgnc_id": 11030,
"hgvs_c": "c.2764-2dupA",
"hgvs_p": null,
"transcript": "ENST00000649996.1",
"protein_id": "ENSP00000497468.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1079,
"cds_start": -4,
"cds_end": null,
"cds_length": 3240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4270,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "SLC4A4",
"gene_hgnc_id": 11030,
"hgvs_c": "c.2608-2dupA",
"hgvs_p": null,
"transcript": "ENST00000698522.1",
"protein_id": "ENSP00000513771.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1027,
"cds_start": -4,
"cds_end": null,
"cds_length": 3084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "SLC4A4",
"gene_hgnc_id": 11030,
"hgvs_c": "c.2779-2dupA",
"hgvs_p": null,
"transcript": "XM_024454268.2",
"protein_id": "XP_024310036.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1084,
"cds_start": -4,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "SLC4A4",
"gene_hgnc_id": 11030,
"hgvs_c": "c.2764-2dupA",
"hgvs_p": null,
"transcript": "XM_024454270.2",
"protein_id": "XP_024310038.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1079,
"cds_start": -4,
"cds_end": null,
"cds_length": 3240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "SLC4A4",
"gene_hgnc_id": 11030,
"hgvs_c": "c.2764-2dupA",
"hgvs_p": null,
"transcript": "XM_024454271.2",
"protein_id": "XP_024310039.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1079,
"cds_start": -4,
"cds_end": null,
"cds_length": 3240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "SLC4A4",
"gene_hgnc_id": 11030,
"hgvs_c": "c.2764-2dupA",
"hgvs_p": null,
"transcript": "XM_024454272.2",
"protein_id": "XP_024310040.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1079,
"cds_start": -4,
"cds_end": null,
"cds_length": 3240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "SLC4A4",
"gene_hgnc_id": 11030,
"hgvs_c": "c.2539-2dupA",
"hgvs_p": null,
"transcript": "XM_017008792.2",
"protein_id": "XP_016864281.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1004,
"cds_start": -4,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "SLC4A4",
"gene_hgnc_id": 11030,
"hgvs_c": "c.2248-2dupA",
"hgvs_p": null,
"transcript": "XM_017008793.2",
"protein_id": "XP_016864282.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 907,
"cds_start": -4,
"cds_end": null,
"cds_length": 2724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "SLC4A4",
"gene_hgnc_id": 11030,
"hgvs_c": "c.2206-2dupA",
"hgvs_p": null,
"transcript": "XM_011532390.3",
"protein_id": "XP_011530692.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 893,
"cds_start": -4,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "SLC4A4",
"gene_hgnc_id": 11030,
"hgvs_c": "c.2107-2dupA",
"hgvs_p": null,
"transcript": "XM_047416348.1",
"protein_id": "XP_047272304.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 860,
"cds_start": -4,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC4A4",
"gene_hgnc_id": 11030,
"dbsnp": "rs148961885",
"frequency_reference_population": 0.0008527005,
"hom_count_reference_population": 14,
"allele_count_reference_population": 1375,
"gnomad_exomes_af": 0.000464929,
"gnomad_genomes_af": 0.00457636,
"gnomad_exomes_ac": 679,
"gnomad_genomes_ac": 696,
"gnomad_exomes_homalt": 6,
"gnomad_genomes_homalt": 8,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 9.325,
"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": -7,
"acmg_classification": "Benign",
"acmg_criteria": "PVS1_Moderate,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 9,
"pathogenic_score": 2,
"criteria": [
"PVS1_Moderate",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000264485.11",
"gene_symbol": "SLC4A4",
"hgnc_id": 11030,
"effects": [
"splice_acceptor_variant",
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2764-2dupA",
"hgvs_p": null
}
],
"clinvar_disease": "Autosomal recessive proximal renal tubular acidosis,SLC4A4-related disorder,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1 B:1",
"phenotype_combined": "Autosomal recessive proximal renal tubular acidosis|not provided|SLC4A4-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}