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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: 19-10116047-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=10116047&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 10116047,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_003755.5",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3G",
"gene_hgnc_id": 3274,
"hgvs_c": "c.623A>T",
"hgvs_p": "p.Asn208Ile",
"transcript": "NM_003755.5",
"protein_id": "NP_003746.2",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 320,
"cds_start": 623,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000253108.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003755.5"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3G",
"gene_hgnc_id": 3274,
"hgvs_c": "c.623A>T",
"hgvs_p": "p.Asn208Ile",
"transcript": "ENST00000253108.9",
"protein_id": "ENSP00000253108.3",
"transcript_support_level": 1,
"aa_start": 208,
"aa_end": null,
"aa_length": 320,
"cds_start": 623,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003755.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000253108.9"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3G",
"gene_hgnc_id": 3274,
"hgvs_c": "c.746A>T",
"hgvs_p": "p.Asn249Ile",
"transcript": "ENST00000899264.1",
"protein_id": "ENSP00000569323.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 361,
"cds_start": 746,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899264.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3G",
"gene_hgnc_id": 3274,
"hgvs_c": "c.665A>T",
"hgvs_p": "p.Asn222Ile",
"transcript": "ENST00000946252.1",
"protein_id": "ENSP00000616311.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 334,
"cds_start": 665,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946252.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3G",
"gene_hgnc_id": 3274,
"hgvs_c": "c.623A>T",
"hgvs_p": "p.Asn208Ile",
"transcript": "ENST00000899262.1",
"protein_id": "ENSP00000569321.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 333,
"cds_start": 623,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899262.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3G",
"gene_hgnc_id": 3274,
"hgvs_c": "c.647A>T",
"hgvs_p": "p.Asn216Ile",
"transcript": "ENST00000946253.1",
"protein_id": "ENSP00000616312.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 328,
"cds_start": 647,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946253.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3G",
"gene_hgnc_id": 3274,
"hgvs_c": "c.623A>T",
"hgvs_p": "p.Asn208Ile",
"transcript": "ENST00000929480.1",
"protein_id": "ENSP00000599539.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 317,
"cds_start": 623,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929480.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3G",
"gene_hgnc_id": 3274,
"hgvs_c": "c.575A>T",
"hgvs_p": "p.Asn192Ile",
"transcript": "ENST00000899263.1",
"protein_id": "ENSP00000569322.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 304,
"cds_start": 575,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899263.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3G",
"gene_hgnc_id": 3274,
"hgvs_c": "c.539A>T",
"hgvs_p": "p.Asn180Ile",
"transcript": "ENST00000946254.1",
"protein_id": "ENSP00000616313.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 292,
"cds_start": 539,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946254.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3G",
"gene_hgnc_id": 3274,
"hgvs_c": "c.599A>T",
"hgvs_p": "p.Asn200Ile",
"transcript": "ENST00000589454.5",
"protein_id": "ENSP00000466860.1",
"transcript_support_level": 5,
"aa_start": 200,
"aa_end": null,
"aa_length": 288,
"cds_start": 599,
"cds_end": null,
"cds_length": 868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589454.5"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3G",
"gene_hgnc_id": 3274,
"hgvs_c": "c.629A>T",
"hgvs_p": "p.Asn210Ile",
"transcript": "ENST00000588709.5",
"protein_id": "ENSP00000465882.1",
"transcript_support_level": 5,
"aa_start": 210,
"aa_end": null,
"aa_length": 261,
"cds_start": 629,
"cds_end": null,
"cds_length": 788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588709.5"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3G",
"gene_hgnc_id": 3274,
"hgvs_c": "c.518A>T",
"hgvs_p": "p.Asn173Ile",
"transcript": "ENST00000587146.5",
"protein_id": "ENSP00000468159.1",
"transcript_support_level": 5,
"aa_start": 173,
"aa_end": null,
"aa_length": 226,
"cds_start": 518,
"cds_end": null,
"cds_length": 682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587146.5"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3G",
"gene_hgnc_id": 3274,
"hgvs_c": "c.56A>T",
"hgvs_p": "p.Asn19Ile",
"transcript": "ENST00000593054.5",
"protein_id": "ENSP00000467187.1",
"transcript_support_level": 5,
"aa_start": 19,
"aa_end": null,
"aa_length": 118,
"cds_start": 56,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593054.5"
},
{
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "EIF3G",
"gene_hgnc_id": 3274,
"hgvs_c": "c.241-346A>T",
"hgvs_p": null,
"transcript": "ENST00000929481.1",
"protein_id": "ENSP00000599540.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 126,
"cds_start": null,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929481.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3G",
"gene_hgnc_id": 3274,
"hgvs_c": "n.642A>T",
"hgvs_p": null,
"transcript": "ENST00000590158.1",
"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": "ENST00000590158.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3G",
"gene_hgnc_id": 3274,
"hgvs_c": "n.*3A>T",
"hgvs_p": null,
"transcript": "ENST00000589009.5",
"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": "ENST00000589009.5"
}
],
"gene_symbol": "EIF3G",
"gene_hgnc_id": 3274,
"dbsnp": "rs149009824",
"frequency_reference_population": 0.0000013683466,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136835,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09417164325714111,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.036,
"revel_prediction": "Benign",
"alphamissense_score": 0.1433,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.016,
"phylop100way_prediction": "Benign",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003755.5",
"gene_symbol": "EIF3G",
"hgnc_id": 3274,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.623A>T",
"hgvs_p": "p.Asn208Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}