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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: 6-34425219-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=34425219&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 34425219,
"ref": "C",
"alt": "T",
"effect": "start_lost,splice_region_variant",
"transcript": "ENST00000648437.1",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS10",
"gene_hgnc_id": 10383,
"hgvs_c": "c.3G>A",
"hgvs_p": "p.Met1?",
"transcript": "NM_001014.5",
"protein_id": "NP_001005.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 165,
"cds_start": 3,
"cds_end": null,
"cds_length": 498,
"cdna_start": 41,
"cdna_end": null,
"cdna_length": 588,
"mane_select": "ENST00000648437.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS10",
"gene_hgnc_id": 10383,
"hgvs_c": "c.3G>A",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000648437.1",
"protein_id": "ENSP00000497917.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 165,
"cds_start": 3,
"cds_end": null,
"cds_length": 498,
"cdna_start": 41,
"cdna_end": null,
"cdna_length": 588,
"mane_select": "NM_001014.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS10-NUDT3",
"gene_hgnc_id": 49181,
"hgvs_c": "c.3G>A",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000639725.1",
"protein_id": "ENSP00000492441.1",
"transcript_support_level": 5,
"aa_start": 1,
"aa_end": null,
"aa_length": 291,
"cds_start": 3,
"cds_end": null,
"cds_length": 876,
"cdna_start": 43,
"cdna_end": null,
"cdna_length": 4782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS10-NUDT3",
"gene_hgnc_id": 49181,
"hgvs_c": "c.3G>A",
"hgvs_p": "p.Met1?",
"transcript": "NM_001202470.3",
"protein_id": "NP_001189399.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 291,
"cds_start": 3,
"cds_end": null,
"cds_length": 876,
"cdna_start": 41,
"cdna_end": null,
"cdna_length": 2473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS10-NUDT3",
"gene_hgnc_id": 49181,
"hgvs_c": "c.3G>A",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000639877.1",
"protein_id": "ENSP00000491891.1",
"transcript_support_level": 5,
"aa_start": 1,
"aa_end": null,
"aa_length": 291,
"cds_start": 3,
"cds_end": null,
"cds_length": 876,
"cdna_start": 254,
"cdna_end": null,
"cdna_length": 2911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS10",
"gene_hgnc_id": 10383,
"hgvs_c": "c.3G>A",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000644700.1",
"protein_id": "ENSP00000495142.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 213,
"cds_start": 3,
"cds_end": null,
"cds_length": 642,
"cdna_start": 39,
"cdna_end": null,
"cdna_length": 1407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS10",
"gene_hgnc_id": 10383,
"hgvs_c": "c.3G>A",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000644393.1",
"protein_id": "ENSP00000496022.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 186,
"cds_start": 3,
"cds_end": null,
"cds_length": 561,
"cdna_start": 41,
"cdna_end": null,
"cdna_length": 638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS10",
"gene_hgnc_id": 10383,
"hgvs_c": "c.3G>A",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000344700.8",
"protein_id": "ENSP00000363169.1",
"transcript_support_level": 3,
"aa_start": 1,
"aa_end": null,
"aa_length": 172,
"cds_start": 3,
"cds_end": null,
"cds_length": 519,
"cdna_start": 24,
"cdna_end": null,
"cdna_length": 671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS10",
"gene_hgnc_id": 10383,
"hgvs_c": "c.3G>A",
"hgvs_p": "p.Met1?",
"transcript": "NM_001203245.3",
"protein_id": "NP_001190174.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 165,
"cds_start": 3,
"cds_end": null,
"cds_length": 498,
"cdna_start": 277,
"cdna_end": null,
"cdna_length": 824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS10",
"gene_hgnc_id": 10383,
"hgvs_c": "c.3G>A",
"hgvs_p": "p.Met1?",
"transcript": "NM_001204091.2",
"protein_id": "NP_001191020.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 165,
"cds_start": 3,
"cds_end": null,
"cds_length": 498,
"cdna_start": 45,
"cdna_end": null,
"cdna_length": 592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS10",
"gene_hgnc_id": 10383,
"hgvs_c": "c.3G>A",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000464218.5",
"protein_id": "ENSP00000494440.1",
"transcript_support_level": 5,
"aa_start": 1,
"aa_end": null,
"aa_length": 165,
"cds_start": 3,
"cds_end": null,
"cds_length": 498,
"cdna_start": 68,
"cdna_end": null,
"cdna_length": 615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS10",
"gene_hgnc_id": 10383,
"hgvs_c": "c.3G>A",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000467531.5",
"protein_id": "ENSP00000494190.1",
"transcript_support_level": 2,
"aa_start": 1,
"aa_end": null,
"aa_length": 165,
"cds_start": 3,
"cds_end": null,
"cds_length": 498,
"cdna_start": 230,
"cdna_end": null,
"cdna_length": 777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS10",
"gene_hgnc_id": 10383,
"hgvs_c": "c.3G>A",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000621356.3",
"protein_id": "ENSP00000481646.1",
"transcript_support_level": 2,
"aa_start": 1,
"aa_end": null,
"aa_length": 165,
"cds_start": 3,
"cds_end": null,
"cds_length": 498,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS10",
"gene_hgnc_id": 10383,
"hgvs_c": "c.3G>A",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000494077.6",
"protein_id": "ENSP00000495405.1",
"transcript_support_level": 2,
"aa_start": 1,
"aa_end": null,
"aa_length": 120,
"cds_start": 3,
"cds_end": null,
"cds_length": 364,
"cdna_start": 462,
"cdna_end": null,
"cdna_length": 823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS10",
"gene_hgnc_id": 10383,
"hgvs_c": "n.22G>A",
"hgvs_p": null,
"transcript": "ENST00000480942.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS10-NUDT3",
"gene_hgnc_id": 49181,
"hgvs_c": "c.-73G>A",
"hgvs_p": null,
"transcript": "ENST00000605528.2",
"protein_id": "ENSP00000475027.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 196,
"cds_start": -4,
"cds_end": null,
"cds_length": 593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RPS10",
"gene_hgnc_id": 10383,
"dbsnp": "rs267607021",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9878814220428467,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.668,
"revel_prediction": "Pathogenic",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.37,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.878,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP5",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000648437.1",
"gene_symbol": "RPS10",
"hgnc_id": 10383,
"effects": [
"start_lost",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3G>A",
"hgvs_p": "p.Met1?"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000639725.1",
"gene_symbol": "RPS10-NUDT3",
"hgnc_id": 49181,
"effects": [
"start_lost",
"splice_region_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.3G>A",
"hgvs_p": "p.Met1?"
}
],
"clinvar_disease": "Diamond-Blackfan anemia 9",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Diamond-Blackfan anemia 9",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}