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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: 4-71472728-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=71472728&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 71472728,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000264485.11",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A4",
"gene_hgnc_id": 11030,
"hgvs_c": "c.1661G>A",
"hgvs_p": "p.Arg554His",
"transcript": "NM_001098484.3",
"protein_id": "NP_001091954.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 1079,
"cds_start": 1661,
"cds_end": null,
"cds_length": 3240,
"cdna_start": 1805,
"cdna_end": null,
"cdna_length": 7716,
"mane_select": "ENST00000264485.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A4",
"gene_hgnc_id": 11030,
"hgvs_c": "c.1661G>A",
"hgvs_p": "p.Arg554His",
"transcript": "ENST00000264485.11",
"protein_id": "ENSP00000264485.5",
"transcript_support_level": 1,
"aa_start": 554,
"aa_end": null,
"aa_length": 1079,
"cds_start": 1661,
"cds_end": null,
"cds_length": 3240,
"cdna_start": 1805,
"cdna_end": null,
"cdna_length": 7716,
"mane_select": "NM_001098484.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A4",
"gene_hgnc_id": 11030,
"hgvs_c": "c.1529G>A",
"hgvs_p": "p.Arg510His",
"transcript": "NM_003759.4",
"protein_id": "NP_003750.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 1035,
"cds_start": 1529,
"cds_end": null,
"cds_length": 3108,
"cdna_start": 1758,
"cdna_end": null,
"cdna_length": 7669,
"mane_select": null,
"mane_plus": "ENST00000340595.4",
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A4",
"gene_hgnc_id": 11030,
"hgvs_c": "c.1529G>A",
"hgvs_p": "p.Arg510His",
"transcript": "ENST00000340595.4",
"protein_id": "ENSP00000344272.3",
"transcript_support_level": 1,
"aa_start": 510,
"aa_end": null,
"aa_length": 1035,
"cds_start": 1529,
"cds_end": null,
"cds_length": 3108,
"cdna_start": 1758,
"cdna_end": null,
"cdna_length": 7669,
"mane_select": null,
"mane_plus": "NM_003759.4",
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A4",
"gene_hgnc_id": 11030,
"hgvs_c": "c.1661G>A",
"hgvs_p": "p.Arg554His",
"transcript": "ENST00000351898.10",
"protein_id": "ENSP00000307349.7",
"transcript_support_level": 1,
"aa_start": 554,
"aa_end": null,
"aa_length": 995,
"cds_start": 1661,
"cds_end": null,
"cds_length": 2988,
"cdna_start": 1737,
"cdna_end": null,
"cdna_length": 3771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A4",
"gene_hgnc_id": 11030,
"hgvs_c": "c.1529G>A",
"hgvs_p": "p.Arg510His",
"transcript": "ENST00000512686.5",
"protein_id": "ENSP00000422400.1",
"transcript_support_level": 1,
"aa_start": 510,
"aa_end": null,
"aa_length": 646,
"cds_start": 1529,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 1725,
"cdna_end": null,
"cdna_length": 2316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A4",
"gene_hgnc_id": 11030,
"hgvs_c": "n.1590G>A",
"hgvs_p": null,
"transcript": "ENST00000514331.1",
"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": 2169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A4",
"gene_hgnc_id": 11030,
"hgvs_c": "c.1754G>A",
"hgvs_p": "p.Arg585His",
"transcript": "NM_001440629.1",
"protein_id": "NP_001427558.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 1110,
"cds_start": 1754,
"cds_end": null,
"cds_length": 3333,
"cdna_start": 1834,
"cdna_end": null,
"cdna_length": 7745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A4",
"gene_hgnc_id": 11030,
"hgvs_c": "c.1661G>A",
"hgvs_p": "p.Arg554His",
"transcript": "NM_001134742.2",
"protein_id": "NP_001128214.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 1094,
"cds_start": 1661,
"cds_end": null,
"cds_length": 3285,
"cdna_start": 2299,
"cdna_end": null,
"cdna_length": 8113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A4",
"gene_hgnc_id": 11030,
"hgvs_c": "c.1661G>A",
"hgvs_p": "p.Arg554His",
"transcript": "ENST00000425175.5",
"protein_id": "ENSP00000393557.1",
"transcript_support_level": 5,
"aa_start": 554,
"aa_end": null,
"aa_length": 1094,
"cds_start": 1661,
"cds_end": null,
"cds_length": 3285,
"cdna_start": 1778,
"cdna_end": null,
"cdna_length": 7596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A4",
"gene_hgnc_id": 11030,
"hgvs_c": "c.1676G>A",
"hgvs_p": "p.Arg559His",
"transcript": "NM_001440628.1",
"protein_id": "NP_001427557.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 1084,
"cds_start": 1676,
"cds_end": null,
"cds_length": 3255,
"cdna_start": 1854,
"cdna_end": null,
"cdna_length": 7765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A4",
"gene_hgnc_id": 11030,
"hgvs_c": "c.1661G>A",
"hgvs_p": "p.Arg554His",
"transcript": "ENST00000649996.1",
"protein_id": "ENSP00000497468.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 1079,
"cds_start": 1661,
"cds_end": null,
"cds_length": 3240,
"cdna_start": 1847,
"cdna_end": null,
"cdna_length": 4270,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A4",
"gene_hgnc_id": 11030,
"hgvs_c": "c.1757G>A",
"hgvs_p": "p.Arg586His",
"transcript": "ENST00000698522.1",
"protein_id": "ENSP00000513771.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 1027,
"cds_start": 1757,
"cds_end": null,
"cds_length": 3084,
"cdna_start": 2022,
"cdna_end": null,
"cdna_length": 7671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A4",
"gene_hgnc_id": 11030,
"hgvs_c": "c.1676G>A",
"hgvs_p": "p.Arg559His",
"transcript": "XM_024454268.2",
"protein_id": "XP_024310036.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 1084,
"cds_start": 1676,
"cds_end": null,
"cds_length": 3255,
"cdna_start": 1936,
"cdna_end": null,
"cdna_length": 7847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A4",
"gene_hgnc_id": 11030,
"hgvs_c": "c.1661G>A",
"hgvs_p": "p.Arg554His",
"transcript": "XM_024454270.2",
"protein_id": "XP_024310038.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 1079,
"cds_start": 1661,
"cds_end": null,
"cds_length": 3240,
"cdna_start": 1667,
"cdna_end": null,
"cdna_length": 7578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A4",
"gene_hgnc_id": 11030,
"hgvs_c": "c.1661G>A",
"hgvs_p": "p.Arg554His",
"transcript": "XM_024454271.2",
"protein_id": "XP_024310039.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 1079,
"cds_start": 1661,
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"cds_length": 3240,
"cdna_start": 1787,
"cdna_end": null,
"cdna_length": 7698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A4",
"gene_hgnc_id": 11030,
"hgvs_c": "c.1661G>A",
"hgvs_p": "p.Arg554His",
"transcript": "XM_024454272.2",
"protein_id": "XP_024310040.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 1079,
"cds_start": 1661,
"cds_end": null,
"cds_length": 3240,
"cdna_start": 3101,
"cdna_end": null,
"cdna_length": 9012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A4",
"gene_hgnc_id": 11030,
"hgvs_c": "c.1436G>A",
"hgvs_p": "p.Arg479His",
"transcript": "XM_017008792.2",
"protein_id": "XP_016864281.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 1004,
"cds_start": 1436,
"cds_end": null,
"cds_length": 3015,
"cdna_start": 1451,
"cdna_end": null,
"cdna_length": 7362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A4",
"gene_hgnc_id": 11030,
"hgvs_c": "c.1145G>A",
"hgvs_p": "p.Arg382His",
"transcript": "XM_017008793.2",
"protein_id": "XP_016864282.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 907,
"cds_start": 1145,
"cds_end": null,
"cds_length": 2724,
"cdna_start": 1751,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A4",
"gene_hgnc_id": 11030,
"hgvs_c": "c.1103G>A",
"hgvs_p": "p.Arg368His",
"transcript": "XM_011532390.3",
"protein_id": "XP_011530692.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 893,
"cds_start": 1103,
"cds_end": null,
"cds_length": 2682,
"cdna_start": 2488,
"cdna_end": null,
"cdna_length": 8399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A4",
"gene_hgnc_id": 11030,
"hgvs_c": "c.1004G>A",
"hgvs_p": "p.Arg335His",
"transcript": "XM_047416348.1",
"protein_id": "XP_047272304.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 860,
"cds_start": 1004,
"cds_end": null,
"cds_length": 2583,
"cdna_start": 2989,
"cdna_end": null,
"cdna_length": 8900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC4A4",
"gene_hgnc_id": 11030,
"dbsnp": "rs121908857",
"frequency_reference_population": 0.0000018608113,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000136926,
"gnomad_genomes_af": 0.00000659805,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9071722626686096,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.882,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.933,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.42,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 10.003,
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000264485.11",
"gene_symbol": "SLC4A4",
"hgnc_id": 11030,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1661G>A",
"hgvs_p": "p.Arg554His"
}
],
"clinvar_disease": "Autosomal recessive proximal renal tubular acidosis",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Autosomal recessive proximal renal tubular acidosis",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}