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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: 7-100803515-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=100803515&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 100803515,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_004444.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHB4",
"gene_hgnc_id": 3395,
"hgvs_c": "c.2910C>T",
"hgvs_p": "p.Ser970Ser",
"transcript": "NM_004444.5",
"protein_id": "NP_004435.3",
"transcript_support_level": null,
"aa_start": 970,
"aa_end": null,
"aa_length": 987,
"cds_start": 2910,
"cds_end": null,
"cds_length": 2964,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000358173.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004444.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHB4",
"gene_hgnc_id": 3395,
"hgvs_c": "c.2910C>T",
"hgvs_p": "p.Ser970Ser",
"transcript": "ENST00000358173.8",
"protein_id": "ENSP00000350896.3",
"transcript_support_level": 1,
"aa_start": 970,
"aa_end": null,
"aa_length": 987,
"cds_start": 2910,
"cds_end": null,
"cds_length": 2964,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004444.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358173.8"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHB4",
"gene_hgnc_id": 3395,
"hgvs_c": "c.2754C>T",
"hgvs_p": "p.Ser918Ser",
"transcript": "ENST00000360620.7",
"protein_id": "ENSP00000353833.3",
"transcript_support_level": 1,
"aa_start": 918,
"aa_end": null,
"aa_length": 935,
"cds_start": 2754,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360620.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHB4",
"gene_hgnc_id": 3395,
"hgvs_c": "n.4111C>T",
"hgvs_p": null,
"transcript": "ENST00000487222.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000487222.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHB4",
"gene_hgnc_id": 3395,
"hgvs_c": "c.3084C>T",
"hgvs_p": "p.Ser1028Ser",
"transcript": "ENST00000922076.1",
"protein_id": "ENSP00000592135.1",
"transcript_support_level": null,
"aa_start": 1028,
"aa_end": null,
"aa_length": 1045,
"cds_start": 3084,
"cds_end": null,
"cds_length": 3138,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922076.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHB4",
"gene_hgnc_id": 3395,
"hgvs_c": "c.3075C>T",
"hgvs_p": "p.Ser1025Ser",
"transcript": "ENST00000922072.1",
"protein_id": "ENSP00000592131.1",
"transcript_support_level": null,
"aa_start": 1025,
"aa_end": null,
"aa_length": 1042,
"cds_start": 3075,
"cds_end": null,
"cds_length": 3129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922072.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHB4",
"gene_hgnc_id": 3395,
"hgvs_c": "c.2964C>T",
"hgvs_p": "p.Ser988Ser",
"transcript": "ENST00000856891.1",
"protein_id": "ENSP00000526950.1",
"transcript_support_level": null,
"aa_start": 988,
"aa_end": null,
"aa_length": 1005,
"cds_start": 2964,
"cds_end": null,
"cds_length": 3018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856891.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHB4",
"gene_hgnc_id": 3395,
"hgvs_c": "c.2949C>T",
"hgvs_p": "p.Ser983Ser",
"transcript": "ENST00000856892.1",
"protein_id": "ENSP00000526951.1",
"transcript_support_level": null,
"aa_start": 983,
"aa_end": null,
"aa_length": 1000,
"cds_start": 2949,
"cds_end": null,
"cds_length": 3003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856892.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHB4",
"gene_hgnc_id": 3395,
"hgvs_c": "c.2922C>T",
"hgvs_p": "p.Ser974Ser",
"transcript": "ENST00000856893.1",
"protein_id": "ENSP00000526952.1",
"transcript_support_level": null,
"aa_start": 974,
"aa_end": null,
"aa_length": 991,
"cds_start": 2922,
"cds_end": null,
"cds_length": 2976,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856893.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHB4",
"gene_hgnc_id": 3395,
"hgvs_c": "c.2898C>T",
"hgvs_p": "p.Ser966Ser",
"transcript": "ENST00000971336.1",
"protein_id": "ENSP00000641395.1",
"transcript_support_level": null,
"aa_start": 966,
"aa_end": null,
"aa_length": 983,
"cds_start": 2898,
"cds_end": null,
"cds_length": 2952,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971336.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHB4",
"gene_hgnc_id": 3395,
"hgvs_c": "c.2784C>T",
"hgvs_p": "p.Ser928Ser",
"transcript": "ENST00000922073.1",
"protein_id": "ENSP00000592132.1",
"transcript_support_level": null,
"aa_start": 928,
"aa_end": null,
"aa_length": 945,
"cds_start": 2784,
"cds_end": null,
"cds_length": 2838,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922073.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHB4",
"gene_hgnc_id": 3395,
"hgvs_c": "c.2742C>T",
"hgvs_p": "p.Ser914Ser",
"transcript": "ENST00000856888.1",
"protein_id": "ENSP00000526947.1",
"transcript_support_level": null,
"aa_start": 914,
"aa_end": null,
"aa_length": 931,
"cds_start": 2742,
"cds_end": null,
"cds_length": 2796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856888.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHB4",
"gene_hgnc_id": 3395,
"hgvs_c": "c.2721C>T",
"hgvs_p": "p.Ser907Ser",
"transcript": "ENST00000922074.1",
"protein_id": "ENSP00000592133.1",
"transcript_support_level": null,
"aa_start": 907,
"aa_end": null,
"aa_length": 924,
"cds_start": 2721,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922074.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHB4",
"gene_hgnc_id": 3395,
"hgvs_c": "c.2709C>T",
"hgvs_p": "p.Ser903Ser",
"transcript": "ENST00000971335.1",
"protein_id": "ENSP00000641394.1",
"transcript_support_level": null,
"aa_start": 903,
"aa_end": null,
"aa_length": 920,
"cds_start": 2709,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971335.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHB4",
"gene_hgnc_id": 3395,
"hgvs_c": "c.2619C>T",
"hgvs_p": "p.Ser873Ser",
"transcript": "ENST00000922075.1",
"protein_id": "ENSP00000592134.1",
"transcript_support_level": null,
"aa_start": 873,
"aa_end": null,
"aa_length": 890,
"cds_start": 2619,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922075.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHB4",
"gene_hgnc_id": 3395,
"hgvs_c": "c.2577C>T",
"hgvs_p": "p.Ser859Ser",
"transcript": "ENST00000856889.1",
"protein_id": "ENSP00000526948.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 876,
"cds_start": 2577,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856889.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHB4",
"gene_hgnc_id": 3395,
"hgvs_c": "c.2421C>T",
"hgvs_p": "p.Ser807Ser",
"transcript": "ENST00000856890.1",
"protein_id": "ENSP00000526949.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 824,
"cds_start": 2421,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856890.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHB4",
"gene_hgnc_id": 3395,
"hgvs_c": "c.2964C>T",
"hgvs_p": "p.Ser988Ser",
"transcript": "XM_017011816.2",
"protein_id": "XP_016867305.1",
"transcript_support_level": null,
"aa_start": 988,
"aa_end": null,
"aa_length": 1005,
"cds_start": 2964,
"cds_end": null,
"cds_length": 3018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011816.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHB4",
"gene_hgnc_id": 3395,
"hgvs_c": "c.*1375C>T",
"hgvs_p": null,
"transcript": "ENST00000616502.4",
"protein_id": "ENSP00000482702.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 306,
"cds_start": null,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616502.4"
}
],
"gene_symbol": "EPHB4",
"gene_hgnc_id": 3395,
"dbsnp": "rs759204782",
"frequency_reference_population": 0.000013173412,
"hom_count_reference_population": 0,
"allele_count_reference_population": 21,
"gnomad_exomes_af": 0.0000138702,
"gnomad_genomes_af": 0.00000657134,
"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6200000047683716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.047,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_004444.5",
"gene_symbol": "EPHB4",
"hgnc_id": 3395,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2910C>T",
"hgvs_p": "p.Ser970Ser"
}
],
"clinvar_disease": "Cardiovascular phenotype",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Cardiovascular phenotype",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}