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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: 12-29341738-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=29341738&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 29341738,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_016570.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERGIC2",
"gene_hgnc_id": 30208,
"hgvs_c": "c.1067A>G",
"hgvs_p": "p.Asn356Ser",
"transcript": "NM_016570.3",
"protein_id": "NP_057654.2",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 377,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000360150.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016570.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERGIC2",
"gene_hgnc_id": 30208,
"hgvs_c": "c.1067A>G",
"hgvs_p": "p.Asn356Ser",
"transcript": "ENST00000360150.9",
"protein_id": "ENSP00000353270.4",
"transcript_support_level": 1,
"aa_start": 356,
"aa_end": null,
"aa_length": 377,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016570.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360150.9"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERGIC2",
"gene_hgnc_id": 30208,
"hgvs_c": "c.1190A>G",
"hgvs_p": "p.Asn397Ser",
"transcript": "ENST00000966763.1",
"protein_id": "ENSP00000636822.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 418,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966763.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERGIC2",
"gene_hgnc_id": 30208,
"hgvs_c": "c.1067A>G",
"hgvs_p": "p.Asn356Ser",
"transcript": "ENST00000869903.1",
"protein_id": "ENSP00000539962.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 377,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869903.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERGIC2",
"gene_hgnc_id": 30208,
"hgvs_c": "c.1067A>G",
"hgvs_p": "p.Asn356Ser",
"transcript": "ENST00000869904.1",
"protein_id": "ENSP00000539963.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 377,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869904.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERGIC2",
"gene_hgnc_id": 30208,
"hgvs_c": "c.1067A>G",
"hgvs_p": "p.Asn356Ser",
"transcript": "ENST00000869907.1",
"protein_id": "ENSP00000539966.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 377,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869907.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERGIC2",
"gene_hgnc_id": 30208,
"hgvs_c": "c.1067A>G",
"hgvs_p": "p.Asn356Ser",
"transcript": "ENST00000869909.1",
"protein_id": "ENSP00000539968.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 377,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869909.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERGIC2",
"gene_hgnc_id": 30208,
"hgvs_c": "c.1067A>G",
"hgvs_p": "p.Asn356Ser",
"transcript": "ENST00000869910.1",
"protein_id": "ENSP00000539969.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 377,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869910.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERGIC2",
"gene_hgnc_id": 30208,
"hgvs_c": "c.1067A>G",
"hgvs_p": "p.Asn356Ser",
"transcript": "ENST00000966762.1",
"protein_id": "ENSP00000636821.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 377,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966762.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERGIC2",
"gene_hgnc_id": 30208,
"hgvs_c": "c.1055A>G",
"hgvs_p": "p.Asn352Ser",
"transcript": "ENST00000869905.1",
"protein_id": "ENSP00000539964.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 373,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869905.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERGIC2",
"gene_hgnc_id": 30208,
"hgvs_c": "c.1037A>G",
"hgvs_p": "p.Asn346Ser",
"transcript": "ENST00000869902.1",
"protein_id": "ENSP00000539961.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 367,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869902.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERGIC2",
"gene_hgnc_id": 30208,
"hgvs_c": "c.1037A>G",
"hgvs_p": "p.Asn346Ser",
"transcript": "ENST00000869906.1",
"protein_id": "ENSP00000539965.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 367,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869906.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERGIC2",
"gene_hgnc_id": 30208,
"hgvs_c": "c.971A>G",
"hgvs_p": "p.Asn324Ser",
"transcript": "ENST00000869911.1",
"protein_id": "ENSP00000539970.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 345,
"cds_start": 971,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869911.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERGIC2",
"gene_hgnc_id": 30208,
"hgvs_c": "c.806A>G",
"hgvs_p": "p.Asn269Ser",
"transcript": "ENST00000869908.1",
"protein_id": "ENSP00000539967.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 290,
"cds_start": 806,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869908.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERGIC2",
"gene_hgnc_id": 30208,
"hgvs_c": "c.560A>G",
"hgvs_p": "p.Asn187Ser",
"transcript": "ENST00000551467.5",
"protein_id": "ENSP00000448535.1",
"transcript_support_level": 5,
"aa_start": 187,
"aa_end": null,
"aa_length": 208,
"cds_start": 560,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551467.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERGIC2",
"gene_hgnc_id": 30208,
"hgvs_c": "c.439A>G",
"hgvs_p": "p.Ile147Val",
"transcript": "ENST00000548909.5",
"protein_id": "ENSP00000448585.1",
"transcript_support_level": 5,
"aa_start": 147,
"aa_end": null,
"aa_length": 162,
"cds_start": 439,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548909.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERGIC2",
"gene_hgnc_id": 30208,
"hgvs_c": "c.1067A>G",
"hgvs_p": "p.Asn356Ser",
"transcript": "XM_024449009.2",
"protein_id": "XP_024304777.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 377,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449009.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "ERGIC2",
"gene_hgnc_id": 30208,
"hgvs_c": "n.128A>G",
"hgvs_p": null,
"transcript": "ENST00000548098.1",
"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": "ENST00000548098.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERGIC2",
"gene_hgnc_id": 30208,
"hgvs_c": "n.*49A>G",
"hgvs_p": null,
"transcript": "ENST00000549182.1",
"protein_id": "ENSP00000447678.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000549182.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERGIC2",
"gene_hgnc_id": 30208,
"hgvs_c": "n.1162A>G",
"hgvs_p": null,
"transcript": "XR_001748741.3",
"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": "XR_001748741.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERGIC2",
"gene_hgnc_id": 30208,
"hgvs_c": "n.*49A>G",
"hgvs_p": null,
"transcript": "ENST00000549182.1",
"protein_id": "ENSP00000447678.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000549182.1"
}
],
"gene_symbol": "ERGIC2",
"gene_hgnc_id": 30208,
"dbsnp": "rs375534310",
"frequency_reference_population": 0.000026289636,
"hom_count_reference_population": 0,
"allele_count_reference_population": 41,
"gnomad_exomes_af": 0.0000270006,
"gnomad_genomes_af": 0.0000197145,
"gnomad_exomes_ac": 38,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04372519254684448,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.3100000023841858,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.046,
"revel_prediction": "Benign",
"alphamissense_score": 0.0618,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.75,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.14,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.31,
"spliceai_max_prediction": "Uncertain_significance",
"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_016570.3",
"gene_symbol": "ERGIC2",
"hgnc_id": 30208,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1067A>G",
"hgvs_p": "p.Asn356Ser"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}