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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: 7-44073947-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=44073947&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 44073947,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001362683.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1150G>T",
"hgvs_p": "p.Ala384Ser",
"transcript": "NM_013284.4",
"protein_id": "NP_037416.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 494,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000242248.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013284.4"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1150G>T",
"hgvs_p": "p.Ala384Ser",
"transcript": "ENST00000242248.10",
"protein_id": "ENSP00000242248.5",
"transcript_support_level": 1,
"aa_start": 384,
"aa_end": null,
"aa_length": 494,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013284.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000242248.10"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.910G>T",
"hgvs_p": "p.Ala304Ser",
"transcript": "ENST00000395831.7",
"protein_id": "ENSP00000379174.3",
"transcript_support_level": 1,
"aa_start": 304,
"aa_end": null,
"aa_length": 508,
"cds_start": 910,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395831.7"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1039G>T",
"hgvs_p": "p.Ala347Ser",
"transcript": "ENST00000335195.10",
"protein_id": "ENSP00000335141.6",
"transcript_support_level": 1,
"aa_start": 347,
"aa_end": null,
"aa_length": 457,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335195.10"
},
{
"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": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "n.*342G>T",
"hgvs_p": null,
"transcript": "ENST00000434229.5",
"protein_id": "ENSP00000395043.1",
"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": "ENST00000434229.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "n.*909G>T",
"hgvs_p": null,
"transcript": "ENST00000458246.5",
"protein_id": "ENSP00000414025.1",
"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": "ENST00000458246.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "n.*342G>T",
"hgvs_p": null,
"transcript": "ENST00000434229.5",
"protein_id": "ENSP00000395043.1",
"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": "ENST00000434229.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "n.*909G>T",
"hgvs_p": null,
"transcript": "ENST00000458246.5",
"protein_id": "ENSP00000414025.1",
"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": "ENST00000458246.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1150G>T",
"hgvs_p": "p.Ala384Ser",
"transcript": "NM_001362683.2",
"protein_id": "NP_001349612.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 588,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362683.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1216G>T",
"hgvs_p": "p.Ala406Ser",
"transcript": "ENST00000881076.1",
"protein_id": "ENSP00000551135.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 516,
"cds_start": 1216,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881076.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1213G>T",
"hgvs_p": "p.Ala405Ser",
"transcript": "ENST00000965031.1",
"protein_id": "ENSP00000635090.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 515,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965031.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.910G>T",
"hgvs_p": "p.Ala304Ser",
"transcript": "NM_001284330.2",
"protein_id": "NP_001271259.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 508,
"cds_start": 910,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284330.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1150G>T",
"hgvs_p": "p.Ala384Ser",
"transcript": "ENST00000881079.1",
"protein_id": "ENSP00000551138.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 493,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881079.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1135G>T",
"hgvs_p": "p.Ala379Ser",
"transcript": "ENST00000881075.1",
"protein_id": "ENSP00000551134.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 489,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881075.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1135G>T",
"hgvs_p": "p.Ala379Ser",
"transcript": "ENST00000881077.1",
"protein_id": "ENSP00000551136.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 489,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881077.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1129G>T",
"hgvs_p": "p.Ala377Ser",
"transcript": "ENST00000935515.1",
"protein_id": "ENSP00000605574.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 487,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935515.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1129G>T",
"hgvs_p": "p.Ala377Ser",
"transcript": "ENST00000935514.1",
"protein_id": "ENSP00000605573.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 486,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935514.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1117G>T",
"hgvs_p": "p.Ala373Ser",
"transcript": "ENST00000965040.1",
"protein_id": "ENSP00000635099.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 483,
"cds_start": 1117,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965040.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1093G>T",
"hgvs_p": "p.Ala365Ser",
"transcript": "ENST00000935513.1",
"protein_id": "ENSP00000605572.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 475,
"cds_start": 1093,
"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": "ENST00000935513.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1081G>T",
"hgvs_p": "p.Ala361Ser",
"transcript": "ENST00000881073.1",
"protein_id": "ENSP00000551132.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 471,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881073.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1039G>T",
"hgvs_p": "p.Ala347Ser",
"transcript": "NM_001284331.2",
"protein_id": "NP_001271260.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 457,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284331.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLM",
"gene_hgnc_id": 9185,
"hgvs_c": "c.1039G>T",
"hgvs_p": "p.Ala347Ser",
"transcript": "ENST00000965039.1",
"protein_id": "ENSP00000635098.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 457,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965039.1"
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"splice_prediction_selected": "Benign",
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{
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"verdict": "Uncertain_significance",
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"custom_annotations": null
}
],
"message": null
}