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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: 7-100803470-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=100803470&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 9,
"criteria": [
"BP4_Strong",
"BP7",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "EPHB4",
"hgnc_id": 3395,
"hgvs_c": "c.2955G>T",
"hgvs_p": "p.Pro985Pro",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -9,
"transcript": "NM_004444.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BS2",
"acmg_score": -9,
"allele_count_reference_population": 7,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.79,
"chr": "7",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7900000214576721,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 987,
"aa_ref": "P",
"aa_start": 985,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4353,
"cdna_start": 3448,
"cds_end": null,
"cds_length": 2964,
"cds_start": 2955,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_004444.5",
"gene_hgnc_id": 3395,
"gene_symbol": "EPHB4",
"hgvs_c": "c.2955G>T",
"hgvs_p": "p.Pro985Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000358173.8",
"protein_coding": true,
"protein_id": "NP_004435.3",
"strand": false,
"transcript": "NM_004444.5",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 987,
"aa_ref": "P",
"aa_start": 985,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4353,
"cdna_start": 3448,
"cds_end": null,
"cds_length": 2964,
"cds_start": 2955,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000358173.8",
"gene_hgnc_id": 3395,
"gene_symbol": "EPHB4",
"hgvs_c": "c.2955G>T",
"hgvs_p": "p.Pro985Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004444.5",
"protein_coding": true,
"protein_id": "ENSP00000350896.3",
"strand": false,
"transcript": "ENST00000358173.8",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 935,
"aa_ref": "P",
"aa_start": 933,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3789,
"cdna_start": 2884,
"cds_end": null,
"cds_length": 2808,
"cds_start": 2799,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000360620.7",
"gene_hgnc_id": 3395,
"gene_symbol": "EPHB4",
"hgvs_c": "c.2799G>T",
"hgvs_p": "p.Pro933Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000353833.3",
"strand": false,
"transcript": "ENST00000360620.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5058,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000487222.5",
"gene_hgnc_id": 3395,
"gene_symbol": "EPHB4",
"hgvs_c": "n.4156G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000487222.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1045,
"aa_ref": "P",
"aa_start": 1043,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4481,
"cdna_start": 3592,
"cds_end": null,
"cds_length": 3138,
"cds_start": 3129,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000922076.1",
"gene_hgnc_id": 3395,
"gene_symbol": "EPHB4",
"hgvs_c": "c.3129G>T",
"hgvs_p": "p.Pro1043Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592135.1",
"strand": false,
"transcript": "ENST00000922076.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1042,
"aa_ref": "P",
"aa_start": 1040,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4550,
"cdna_start": 3645,
"cds_end": null,
"cds_length": 3129,
"cds_start": 3120,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000922072.1",
"gene_hgnc_id": 3395,
"gene_symbol": "EPHB4",
"hgvs_c": "c.3120G>T",
"hgvs_p": "p.Pro1040Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592131.1",
"strand": false,
"transcript": "ENST00000922072.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1005,
"aa_ref": "P",
"aa_start": 1003,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4380,
"cdna_start": 3475,
"cds_end": null,
"cds_length": 3018,
"cds_start": 3009,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000856891.1",
"gene_hgnc_id": 3395,
"gene_symbol": "EPHB4",
"hgvs_c": "c.3009G>T",
"hgvs_p": "p.Pro1003Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526950.1",
"strand": false,
"transcript": "ENST00000856891.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1000,
"aa_ref": "P",
"aa_start": 998,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4339,
"cdna_start": 3435,
"cds_end": null,
"cds_length": 3003,
"cds_start": 2994,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000856892.1",
"gene_hgnc_id": 3395,
"gene_symbol": "EPHB4",
"hgvs_c": "c.2994G>T",
"hgvs_p": "p.Pro998Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526951.1",
"strand": false,
"transcript": "ENST00000856892.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 991,
"aa_ref": "P",
"aa_start": 989,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4213,
"cdna_start": 3306,
"cds_end": null,
"cds_length": 2976,
"cds_start": 2967,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000856893.1",
"gene_hgnc_id": 3395,
"gene_symbol": "EPHB4",
"hgvs_c": "c.2967G>T",
"hgvs_p": "p.Pro989Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526952.1",
"strand": false,
"transcript": "ENST00000856893.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 983,
"aa_ref": "P",
"aa_start": 981,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4285,
"cdna_start": 3396,
"cds_end": null,
"cds_length": 2952,
"cds_start": 2943,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000971336.1",
"gene_hgnc_id": 3395,
"gene_symbol": "EPHB4",
"hgvs_c": "c.2943G>T",
"hgvs_p": "p.Pro981Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641395.1",
"strand": false,
"transcript": "ENST00000971336.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 945,
"aa_ref": "P",
"aa_start": 943,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4226,
"cdna_start": 3322,
"cds_end": null,
"cds_length": 2838,
"cds_start": 2829,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000922073.1",
"gene_hgnc_id": 3395,
"gene_symbol": "EPHB4",
"hgvs_c": "c.2829G>T",
"hgvs_p": "p.Pro943Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592132.1",
"strand": false,
"transcript": "ENST00000922073.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 931,
"aa_ref": "P",
"aa_start": 929,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4185,
"cdna_start": 3280,
"cds_end": null,
"cds_length": 2796,
"cds_start": 2787,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000856888.1",
"gene_hgnc_id": 3395,
"gene_symbol": "EPHB4",
"hgvs_c": "c.2787G>T",
"hgvs_p": "p.Pro929Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526947.1",
"strand": false,
"transcript": "ENST00000856888.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 924,
"aa_ref": "P",
"aa_start": 922,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4137,
"cdna_start": 3241,
"cds_end": null,
"cds_length": 2775,
"cds_start": 2766,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000922074.1",
"gene_hgnc_id": 3395,
"gene_symbol": "EPHB4",
"hgvs_c": "c.2766G>T",
"hgvs_p": "p.Pro922Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592133.1",
"strand": false,
"transcript": "ENST00000922074.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 920,
"aa_ref": "P",
"aa_start": 918,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4171,
"cdna_start": 3268,
"cds_end": null,
"cds_length": 2763,
"cds_start": 2754,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000971335.1",
"gene_hgnc_id": 3395,
"gene_symbol": "EPHB4",
"hgvs_c": "c.2754G>T",
"hgvs_p": "p.Pro918Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641394.1",
"strand": false,
"transcript": "ENST00000971335.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 890,
"aa_ref": "P",
"aa_start": 888,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4033,
"cdna_start": 3144,
"cds_end": null,
"cds_length": 2673,
"cds_start": 2664,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000922075.1",
"gene_hgnc_id": 3395,
"gene_symbol": "EPHB4",
"hgvs_c": "c.2664G>T",
"hgvs_p": "p.Pro888Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592134.1",
"strand": false,
"transcript": "ENST00000922075.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 876,
"aa_ref": "P",
"aa_start": 874,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4014,
"cdna_start": 3109,
"cds_end": null,
"cds_length": 2631,
"cds_start": 2622,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000856889.1",
"gene_hgnc_id": 3395,
"gene_symbol": "EPHB4",
"hgvs_c": "c.2622G>T",
"hgvs_p": "p.Pro874Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526948.1",
"strand": false,
"transcript": "ENST00000856889.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 824,
"aa_ref": "P",
"aa_start": 822,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3852,
"cdna_start": 2958,
"cds_end": null,
"cds_length": 2475,
"cds_start": 2466,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000856890.1",
"gene_hgnc_id": 3395,
"gene_symbol": "EPHB4",
"hgvs_c": "c.2466G>T",
"hgvs_p": "p.Pro822Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526949.1",
"strand": false,
"transcript": "ENST00000856890.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1005,
"aa_ref": "P",
"aa_start": 1003,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4407,
"cdna_start": 3502,
"cds_end": null,
"cds_length": 3018,
"cds_start": 3009,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_017011816.2",
"gene_hgnc_id": 3395,
"gene_symbol": "EPHB4",
"hgvs_c": "c.3009G>T",
"hgvs_p": "p.Pro1003Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016867305.1",
"strand": false,
"transcript": "XM_017011816.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 306,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3737,
"cdna_start": null,
"cds_end": null,
"cds_length": 921,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000616502.4",
"gene_hgnc_id": 3395,
"gene_symbol": "EPHB4",
"hgvs_c": "c.*1420G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482702.1",
"strand": false,
"transcript": "ENST00000616502.4",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs56086910",
"effect": "synonymous_variant",
"frequency_reference_population": 0.000004928446,
"gene_hgnc_id": 3395,
"gene_symbol": "EPHB4",
"gnomad_exomes_ac": 7,
"gnomad_exomes_af": 0.00000492845,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.641,
"pos": 100803470,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_004444.5"
}
]
}