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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: 1-46576577-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=46576577&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 46576577,
"ref": "G",
"alt": "A",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "NM_003684.7",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.276C>T",
"hgvs_p": "p.Asn92Asn",
"transcript": "NM_001135553.4",
"protein_id": "NP_001129025.2",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 412,
"cds_start": 276,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371945.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135553.4"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.276C>T",
"hgvs_p": "p.Asn92Asn",
"transcript": "ENST00000371945.10",
"protein_id": "ENSP00000361013.5",
"transcript_support_level": 1,
"aa_start": 92,
"aa_end": null,
"aa_length": 412,
"cds_start": 276,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001135553.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371945.10"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.276C>T",
"hgvs_p": "p.Asn92Asn",
"transcript": "ENST00000371946.9",
"protein_id": "ENSP00000361014.5",
"transcript_support_level": 1,
"aa_start": 92,
"aa_end": null,
"aa_length": 453,
"cds_start": 276,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371946.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "n.376C>T",
"hgvs_p": null,
"transcript": "ENST00000342571.7",
"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": "pseudogene",
"feature": "ENST00000342571.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "n.565C>T",
"hgvs_p": null,
"transcript": "ENST00000484301.5",
"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": "ENST00000484301.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "n.*43C>T",
"hgvs_p": null,
"transcript": "ENST00000531355.6",
"protein_id": "ENSP00000434493.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000531355.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "n.*43C>T",
"hgvs_p": null,
"transcript": "ENST00000531355.6",
"protein_id": "ENSP00000434493.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000531355.6"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.101C>T",
"hgvs_p": "p.Thr34Ile",
"transcript": "ENST00000341183.9",
"protein_id": "ENSP00000339573.6",
"transcript_support_level": 5,
"aa_start": 34,
"aa_end": null,
"aa_length": 329,
"cds_start": 101,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341183.9"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.312C>T",
"hgvs_p": "p.Asn104Asn",
"transcript": "ENST00000649800.1",
"protein_id": "ENSP00000498083.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 465,
"cds_start": 312,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649800.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.276C>T",
"hgvs_p": "p.Asn92Asn",
"transcript": "NM_003684.7",
"protein_id": "NP_003675.3",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 453,
"cds_start": 276,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003684.7"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.276C>T",
"hgvs_p": "p.Asn92Asn",
"transcript": "ENST00000898407.1",
"protein_id": "ENSP00000568466.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 453,
"cds_start": 276,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898407.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.276C>T",
"hgvs_p": "p.Asn92Asn",
"transcript": "ENST00000898420.1",
"protein_id": "ENSP00000568479.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 453,
"cds_start": 276,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898420.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.276C>T",
"hgvs_p": "p.Asn92Asn",
"transcript": "ENST00000967057.1",
"protein_id": "ENSP00000637116.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 453,
"cds_start": 276,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967057.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.312C>T",
"hgvs_p": "p.Asn104Asn",
"transcript": "ENST00000650508.1",
"protein_id": "ENSP00000498143.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 424,
"cds_start": 312,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650508.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.276C>T",
"hgvs_p": "p.Asn92Asn",
"transcript": "ENST00000898424.1",
"protein_id": "ENSP00000568483.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 422,
"cds_start": 276,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898424.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.276C>T",
"hgvs_p": "p.Asn92Asn",
"transcript": "ENST00000940355.1",
"protein_id": "ENSP00000610414.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 422,
"cds_start": 276,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940355.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.294C>T",
"hgvs_p": "p.Asn98Asn",
"transcript": "NM_001377337.1",
"protein_id": "NP_001364266.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 418,
"cds_start": 294,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377337.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.294C>T",
"hgvs_p": "p.Asn98Asn",
"transcript": "NM_001377338.1",
"protein_id": "NP_001364267.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 418,
"cds_start": 294,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377338.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.276C>T",
"hgvs_p": "p.Asn92Asn",
"transcript": "ENST00000967062.1",
"protein_id": "ENSP00000637121.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 415,
"cds_start": 276,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967062.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.276C>T",
"hgvs_p": "p.Asn92Asn",
"transcript": "NM_001377373.1",
"protein_id": "NP_001364302.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 412,
"cds_start": 276,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377373.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.276C>T",
"hgvs_p": "p.Asn92Asn",
"transcript": "ENST00000898408.1",
"protein_id": "ENSP00000568467.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 412,
"cds_start": 276,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898408.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKNK1",
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{
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{
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{
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.095,
"revel_prediction": "Benign",
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"alphamissense_prediction": "Benign",
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"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": "Pathogenic",
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"acmg_score": 3,
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{
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"criteria": [
"PM2",
"PP3"
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"verdict": "Uncertain_significance",
"transcript": "NM_003684.7",
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"effects": [
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}