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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: 19-54927649-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=54927649&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 54927649,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001127255.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP7",
"gene_hgnc_id": 22947,
"hgvs_c": "c.2937C>A",
"hgvs_p": "p.Leu979Leu",
"transcript": "NM_001127255.2",
"protein_id": "NP_001120727.1",
"transcript_support_level": null,
"aa_start": 979,
"aa_end": null,
"aa_length": 1037,
"cds_start": 2937,
"cds_end": null,
"cds_length": 3114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000592784.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127255.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP7",
"gene_hgnc_id": 22947,
"hgvs_c": "c.2937C>A",
"hgvs_p": "p.Leu979Leu",
"transcript": "ENST00000592784.6",
"protein_id": "ENSP00000468706.1",
"transcript_support_level": 1,
"aa_start": 979,
"aa_end": null,
"aa_length": 1037,
"cds_start": 2937,
"cds_end": null,
"cds_length": 3114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001127255.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592784.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP7",
"gene_hgnc_id": 22947,
"hgvs_c": "c.2937C>A",
"hgvs_p": "p.Leu979Leu",
"transcript": "ENST00000588756.5",
"protein_id": "ENSP00000467123.1",
"transcript_support_level": 1,
"aa_start": 979,
"aa_end": null,
"aa_length": 1037,
"cds_start": 2937,
"cds_end": null,
"cds_length": 3114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588756.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "NLRP7",
"gene_hgnc_id": 22947,
"hgvs_c": "c.2810+2850C>A",
"hgvs_p": null,
"transcript": "ENST00000340844.6",
"protein_id": "ENSP00000339491.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 980,
"cds_start": null,
"cds_end": null,
"cds_length": 2943,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340844.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NLRP7",
"gene_hgnc_id": 22947,
"hgvs_c": "c.2810+2850C>A",
"hgvs_p": null,
"transcript": "ENST00000590030.5",
"protein_id": "ENSP00000465520.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 980,
"cds_start": null,
"cds_end": null,
"cds_length": 2943,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590030.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP7",
"gene_hgnc_id": 22947,
"hgvs_c": "n.*8C>A",
"hgvs_p": null,
"transcript": "ENST00000586379.5",
"protein_id": "ENSP00000468243.1",
"transcript_support_level": 1,
"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": "ENST00000586379.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP7",
"gene_hgnc_id": 22947,
"hgvs_c": "n.*8C>A",
"hgvs_p": null,
"transcript": "ENST00000586379.5",
"protein_id": "ENSP00000468243.1",
"transcript_support_level": 1,
"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": "ENST00000586379.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP7",
"gene_hgnc_id": 22947,
"hgvs_c": "c.2937C>A",
"hgvs_p": "p.Leu979Leu",
"transcript": "NM_001405531.1",
"protein_id": "NP_001392460.1",
"transcript_support_level": null,
"aa_start": 979,
"aa_end": null,
"aa_length": 1037,
"cds_start": 2937,
"cds_end": null,
"cds_length": 3114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405531.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP7",
"gene_hgnc_id": 22947,
"hgvs_c": "c.2853C>A",
"hgvs_p": "p.Leu951Leu",
"transcript": "NM_139176.4",
"protein_id": "NP_631915.2",
"transcript_support_level": null,
"aa_start": 951,
"aa_end": null,
"aa_length": 1009,
"cds_start": 2853,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139176.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP7",
"gene_hgnc_id": 22947,
"hgvs_c": "c.2853C>A",
"hgvs_p": "p.Leu951Leu",
"transcript": "ENST00000328092.9",
"protein_id": "ENSP00000329568.5",
"transcript_support_level": 5,
"aa_start": 951,
"aa_end": null,
"aa_length": 1009,
"cds_start": 2853,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000328092.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP7",
"gene_hgnc_id": 22947,
"hgvs_c": "c.*8C>A",
"hgvs_p": null,
"transcript": "XM_047438386.1",
"protein_id": "XP_047294342.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 963,
"cds_start": null,
"cds_end": null,
"cds_length": 2892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438386.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "NLRP7",
"gene_hgnc_id": 22947,
"hgvs_c": "c.2810+2850C>A",
"hgvs_p": null,
"transcript": "NM_206828.4",
"protein_id": "NP_996611.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 980,
"cds_start": null,
"cds_end": null,
"cds_length": 2943,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_206828.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NCR1",
"gene_hgnc_id": 6731,
"hgvs_c": "c.683-10487G>T",
"hgvs_p": null,
"transcript": "XM_011527530.4",
"protein_id": "XP_011525832.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 229,
"cds_start": null,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527530.4"
}
],
"gene_symbol": "NLRP7",
"gene_hgnc_id": 22947,
"dbsnp": "rs148164395",
"frequency_reference_population": 0.00010531833,
"hom_count_reference_population": 0,
"allele_count_reference_population": 170,
"gnomad_exomes_af": 0.0000526721,
"gnomad_genomes_af": 0.000610717,
"gnomad_exomes_ac": 77,
"gnomad_genomes_ac": 93,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.005,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001127255.2",
"gene_symbol": "NLRP7",
"hgnc_id": 22947,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2937C>A",
"hgvs_p": "p.Leu979Leu"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "XM_011527530.4",
"gene_symbol": "NCR1",
"hgnc_id": 6731,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.683-10487G>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}