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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: 1-6636189-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=6636189&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 6636189,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_018198.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC11",
"gene_hgnc_id": 25570,
"hgvs_c": "c.1582C>G",
"hgvs_p": "p.Leu528Val",
"transcript": "NM_018198.4",
"protein_id": "NP_060668.2",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 559,
"cds_start": 1582,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000377577.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018198.4"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC11",
"gene_hgnc_id": 25570,
"hgvs_c": "c.1582C>G",
"hgvs_p": "p.Leu528Val",
"transcript": "ENST00000377577.10",
"protein_id": "ENSP00000366800.5",
"transcript_support_level": 1,
"aa_start": 528,
"aa_end": null,
"aa_length": 559,
"cds_start": 1582,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018198.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377577.10"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC11",
"gene_hgnc_id": 25570,
"hgvs_c": "c.1426C>G",
"hgvs_p": "p.Leu476Val",
"transcript": "ENST00000294401.11",
"protein_id": "ENSP00000294401.7",
"transcript_support_level": 1,
"aa_start": 476,
"aa_end": null,
"aa_length": 507,
"cds_start": 1426,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000294401.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DNAJC11",
"gene_hgnc_id": 25570,
"hgvs_c": "c.741-1405C>G",
"hgvs_p": null,
"transcript": "ENST00000451196.5",
"protein_id": "ENSP00000415871.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 332,
"cds_start": null,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451196.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC11",
"gene_hgnc_id": 25570,
"hgvs_c": "c.1672C>G",
"hgvs_p": "p.Leu558Val",
"transcript": "ENST00000885072.1",
"protein_id": "ENSP00000555131.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 589,
"cds_start": 1672,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885072.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC11",
"gene_hgnc_id": 25570,
"hgvs_c": "c.1642C>G",
"hgvs_p": "p.Leu548Val",
"transcript": "ENST00000954225.1",
"protein_id": "ENSP00000624284.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 579,
"cds_start": 1642,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954225.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC11",
"gene_hgnc_id": 25570,
"hgvs_c": "c.1624C>G",
"hgvs_p": "p.Leu542Val",
"transcript": "ENST00000885069.1",
"protein_id": "ENSP00000555128.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 573,
"cds_start": 1624,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885069.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC11",
"gene_hgnc_id": 25570,
"hgvs_c": "c.1615C>G",
"hgvs_p": "p.Leu539Val",
"transcript": "ENST00000885068.1",
"protein_id": "ENSP00000555127.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 570,
"cds_start": 1615,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885068.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC11",
"gene_hgnc_id": 25570,
"hgvs_c": "c.1480C>G",
"hgvs_p": "p.Leu494Val",
"transcript": "ENST00000885070.1",
"protein_id": "ENSP00000555129.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 525,
"cds_start": 1480,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885070.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC11",
"gene_hgnc_id": 25570,
"hgvs_c": "c.1459C>G",
"hgvs_p": "p.Leu487Val",
"transcript": "ENST00000885071.1",
"protein_id": "ENSP00000555130.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 518,
"cds_start": 1459,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885071.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC11",
"gene_hgnc_id": 25570,
"hgvs_c": "c.1378C>G",
"hgvs_p": "p.Leu460Val",
"transcript": "ENST00000954226.1",
"protein_id": "ENSP00000624285.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 491,
"cds_start": 1378,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954226.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC11",
"gene_hgnc_id": 25570,
"hgvs_c": "c.1357C>G",
"hgvs_p": "p.Leu453Val",
"transcript": "ENST00000939001.1",
"protein_id": "ENSP00000609060.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 484,
"cds_start": 1357,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939001.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC11",
"gene_hgnc_id": 25570,
"hgvs_c": "c.1330C>G",
"hgvs_p": "p.Leu444Val",
"transcript": "ENST00000939002.1",
"protein_id": "ENSP00000609061.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 475,
"cds_start": 1330,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939002.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC11",
"gene_hgnc_id": 25570,
"hgvs_c": "c.1303C>G",
"hgvs_p": "p.Leu435Val",
"transcript": "ENST00000939003.1",
"protein_id": "ENSP00000609062.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 466,
"cds_start": 1303,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939003.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC11",
"gene_hgnc_id": 25570,
"hgvs_c": "c.1228C>G",
"hgvs_p": "p.Leu410Val",
"transcript": "ENST00000885067.1",
"protein_id": "ENSP00000555126.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 441,
"cds_start": 1228,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885067.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC11",
"gene_hgnc_id": 25570,
"hgvs_c": "c.1312C>G",
"hgvs_p": "p.Leu438Val",
"transcript": "XM_047424842.1",
"protein_id": "XP_047280798.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 469,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424842.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC11",
"gene_hgnc_id": 25570,
"hgvs_c": "n.886C>G",
"hgvs_p": null,
"transcript": "ENST00000465508.6",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000465508.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC11",
"gene_hgnc_id": 25570,
"hgvs_c": "n.2261C>G",
"hgvs_p": null,
"transcript": "ENST00000472414.2",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000472414.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC11",
"gene_hgnc_id": 25570,
"hgvs_c": "n.*1326C>G",
"hgvs_p": null,
"transcript": "ENST00000685129.1",
"protein_id": "ENSP00000509149.1",
"transcript_support_level": null,
"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": "ENST00000685129.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC11",
"gene_hgnc_id": 25570,
"hgvs_c": "n.2646C>G",
"hgvs_p": null,
"transcript": "ENST00000685360.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000685360.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC11",
"gene_hgnc_id": 25570,
"hgvs_c": "n.*1969C>G",
"hgvs_p": null,
"transcript": "ENST00000686243.1",
"protein_id": "ENSP00000509108.1",
"transcript_support_level": null,
"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": "ENST00000686243.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC11",
"gene_hgnc_id": 25570,
"hgvs_c": "n.*1713C>G",
"hgvs_p": null,
"transcript": "ENST00000688524.1",
"protein_id": "ENSP00000508956.1",
"transcript_support_level": null,
"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": "ENST00000688524.1"
},
{
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{
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{
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{
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],
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"gene_symbol": "DNAJC11",
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"transcript": "ENST00000688524.1",
"protein_id": "ENSP00000508956.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000688524.1"
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],
"gene_symbol": "DNAJC11",
"gene_hgnc_id": 25570,
"dbsnp": "rs772988823",
"frequency_reference_population": 0.00000557607,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000547245,
"gnomad_genomes_af": 0.00000657151,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2370528280735016,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.195,
"revel_prediction": "Benign",
"alphamissense_score": 0.1021,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.518,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_018198.4",
"gene_symbol": "DNAJC11",
"hgnc_id": 25570,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1582C>G",
"hgvs_p": "p.Leu528Val"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}