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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: 17-78188386-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=78188386&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 78188386,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000409257.10",
"consequences": [
{
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.63+953G>A",
"hgvs_p": null,
"transcript": "NM_001010982.5",
"protein_id": "NP_001010982.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 303,
"cds_start": -4,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1686,
"mane_select": "ENST00000409257.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.63+953G>A",
"hgvs_p": null,
"transcript": "ENST00000409257.10",
"protein_id": "ENSP00000386890.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 303,
"cds_start": -4,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1686,
"mane_select": "NM_001010982.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.63+953G>A",
"hgvs_p": null,
"transcript": "ENST00000327898.9",
"protein_id": "ENSP00000328938.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 308,
"cds_start": -4,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.63+953G>A",
"hgvs_p": null,
"transcript": "ENST00000589256.5",
"protein_id": "ENSP00000466859.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 57,
"cds_start": -4,
"cds_end": null,
"cds_length": 174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.63+953G>A",
"hgvs_p": null,
"transcript": "NM_001145526.3",
"protein_id": "NP_001138998.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 308,
"cds_start": -4,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.63+953G>A",
"hgvs_p": null,
"transcript": "NM_001391999.1",
"protein_id": "NP_001378928.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": -4,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.63+953G>A",
"hgvs_p": null,
"transcript": "ENST00000591256.5",
"protein_id": "ENSP00000466515.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 205,
"cds_start": -4,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.63+953G>A",
"hgvs_p": null,
"transcript": "NM_001392000.1",
"protein_id": "NP_001378929.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 191,
"cds_start": -4,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.63+953G>A",
"hgvs_p": null,
"transcript": "ENST00000586542.5",
"protein_id": "ENSP00000466566.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 186,
"cds_start": -4,
"cds_end": null,
"cds_length": 562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.63+953G>A",
"hgvs_p": null,
"transcript": "NM_001392001.1",
"protein_id": "NP_001378930.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 181,
"cds_start": -4,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.63+953G>A",
"hgvs_p": null,
"transcript": "NM_001392002.1",
"protein_id": "NP_001378931.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 170,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 1,
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"gene_symbol": "AFMID",
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"hgvs_c": "c.63+953G>A",
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"transcript": "NM_001392003.1",
"protein_id": "NP_001378932.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 1,
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"gene_symbol": "AFMID",
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"hgvs_c": "c.63+953G>A",
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"transcript": "NM_001392004.1",
"protein_id": "NP_001378933.1",
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"aa_start": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 1,
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"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.63+953G>A",
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"transcript": "NM_001392005.1",
"protein_id": "NP_001378934.1",
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},
{
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],
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"gene_symbol": "AFMID",
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"hgvs_c": "c.63+953G>A",
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"transcript": "NM_001392006.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 1,
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"gene_symbol": "AFMID",
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"hgvs_c": "c.63+953G>A",
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"transcript": "NM_001392007.1",
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},
{
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],
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"gene_symbol": "AFMID",
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"hgvs_c": "c.63+953G>A",
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"transcript": "ENST00000588800.5",
"protein_id": "ENSP00000464929.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "AFMID",
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"hgvs_c": "c.63+953G>A",
"hgvs_p": null,
"transcript": "ENST00000591952.5",
"protein_id": "ENSP00000467365.1",
"transcript_support_level": 2,
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},
{
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"protein_coding": true,
"strand": true,
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],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.12+953G>A",
"hgvs_p": null,
"transcript": "ENST00000586731.1",
"protein_id": "ENSP00000466241.1",
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},
{
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],
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"gene_symbol": "AFMID",
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"hgvs_c": "n.63+953G>A",
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},
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],
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"intron_rank": 1,
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"transcript": "ENST00000589107.5",
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},
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"strand": true,
"consequences": [
"intron_variant"
],
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"intron_rank": 1,
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"gene_symbol": "AFMID",
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"hgvs_c": "n.72+953G>A",
"hgvs_p": null,
"transcript": "ENST00000592988.5",
"protein_id": null,
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"aa_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "n.72+953G>A",
"hgvs_p": null,
"transcript": "NR_027083.2",
"protein_id": null,
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"mane_select": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 8,
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"gene_symbol": "AFMID",
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"transcript": "XR_007065262.1",
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 655,
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"mane_plus": null,
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"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 1,
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"gene_symbol": "AFMID",
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"hgvs_c": "n.72+953G>A",
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"transcript": "XR_934369.2",
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"aa_length": null,
"cds_start": -4,
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"cdna_length": 648,
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"mane_plus": null,
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"feature": null
}
],
"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"dbsnp": "rs8071253",
"frequency_reference_population": 0.0013011422,
"hom_count_reference_population": 5,
"allele_count_reference_population": 198,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00130114,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 198,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 5,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9200000166893005,
"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": -0.92,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.442,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000409257.10",
"gene_symbol": "AFMID",
"hgnc_id": 20910,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.63+953G>A",
"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
}