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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: 2-127865136-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=127865136&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 127865136,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001410953.1",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMMECR1L",
"gene_hgnc_id": 28658,
"hgvs_c": "c.891C>G",
"hgvs_p": "p.Asn297Lys",
"transcript": "NM_001199140.2",
"protein_id": "NP_001186069.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 310,
"cds_start": 891,
"cds_end": null,
"cds_length": 933,
"cdna_start": 1186,
"cdna_end": null,
"cdna_length": 4692,
"mane_select": "ENST00000272647.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199140.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMMECR1L",
"gene_hgnc_id": 28658,
"hgvs_c": "c.891C>G",
"hgvs_p": "p.Asn297Lys",
"transcript": "ENST00000272647.10",
"protein_id": "ENSP00000272647.6",
"transcript_support_level": 1,
"aa_start": 297,
"aa_end": null,
"aa_length": 310,
"cds_start": 891,
"cds_end": null,
"cds_length": 933,
"cdna_start": 1186,
"cdna_end": null,
"cdna_length": 4692,
"mane_select": "NM_001199140.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000272647.10"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMMECR1L",
"gene_hgnc_id": 28658,
"hgvs_c": "c.891C>G",
"hgvs_p": "p.Asn297Lys",
"transcript": "ENST00000393001.1",
"protein_id": "ENSP00000376726.1",
"transcript_support_level": 1,
"aa_start": 297,
"aa_end": null,
"aa_length": 310,
"cds_start": 891,
"cds_end": null,
"cds_length": 933,
"cdna_start": 1142,
"cdna_end": null,
"cdna_length": 4641,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393001.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMMECR1L",
"gene_hgnc_id": 28658,
"hgvs_c": "c.1026C>G",
"hgvs_p": "p.Asn342Lys",
"transcript": "NM_001410953.1",
"protein_id": "NP_001397882.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 355,
"cds_start": 1026,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 1321,
"cdna_end": null,
"cdna_length": 4827,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410953.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMMECR1L",
"gene_hgnc_id": 28658,
"hgvs_c": "c.1026C>G",
"hgvs_p": "p.Asn342Lys",
"transcript": "ENST00000681844.1",
"protein_id": "ENSP00000505104.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 355,
"cds_start": 1026,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 1269,
"cdna_end": null,
"cdna_length": 4756,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681844.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMMECR1L",
"gene_hgnc_id": 28658,
"hgvs_c": "c.891C>G",
"hgvs_p": "p.Asn297Lys",
"transcript": "NM_031445.2",
"protein_id": "NP_113633.2",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 310,
"cds_start": 891,
"cds_end": null,
"cds_length": 933,
"cdna_start": 1142,
"cdna_end": null,
"cdna_length": 4648,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031445.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMMECR1L",
"gene_hgnc_id": 28658,
"hgvs_c": "c.780C>G",
"hgvs_p": "p.Asn260Lys",
"transcript": "NM_001410954.1",
"protein_id": "NP_001397883.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 273,
"cds_start": 780,
"cds_end": null,
"cds_length": 822,
"cdna_start": 1075,
"cdna_end": null,
"cdna_length": 4581,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410954.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMMECR1L",
"gene_hgnc_id": 28658,
"hgvs_c": "c.780C>G",
"hgvs_p": "p.Asn260Lys",
"transcript": "ENST00000680886.1",
"protein_id": "ENSP00000505606.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 273,
"cds_start": 780,
"cds_end": null,
"cds_length": 822,
"cdna_start": 1080,
"cdna_end": null,
"cdna_length": 4567,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680886.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMMECR1L",
"gene_hgnc_id": 28658,
"hgvs_c": "c.915C>G",
"hgvs_p": "p.Asn305Lys",
"transcript": "XM_005263806.6",
"protein_id": "XP_005263863.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 318,
"cds_start": 915,
"cds_end": null,
"cds_length": 957,
"cdna_start": 1210,
"cdna_end": null,
"cdna_length": 4716,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005263806.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMMECR1L",
"gene_hgnc_id": 28658,
"hgvs_c": "c.*101C>G",
"hgvs_p": null,
"transcript": "ENST00000680603.1",
"protein_id": "ENSP00000506318.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 350,
"cds_start": null,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4884,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680603.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMMECR1L",
"gene_hgnc_id": 28658,
"hgvs_c": "c.*118C>G",
"hgvs_p": null,
"transcript": "ENST00000681549.1",
"protein_id": "ENSP00000505095.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 282,
"cds_start": null,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4768,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681549.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMMECR1L",
"gene_hgnc_id": 28658,
"hgvs_c": "n.*166C>G",
"hgvs_p": null,
"transcript": "ENST00000679574.1",
"protein_id": "ENSP00000506697.1",
"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": 4349,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000679574.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMMECR1L",
"gene_hgnc_id": 28658,
"hgvs_c": "n.*569C>G",
"hgvs_p": null,
"transcript": "ENST00000679797.1",
"protein_id": "ENSP00000505986.1",
"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": 4784,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000679797.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMMECR1L",
"gene_hgnc_id": 28658,
"hgvs_c": "n.*367C>G",
"hgvs_p": null,
"transcript": "ENST00000680045.1",
"protein_id": "ENSP00000506104.1",
"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": 4860,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000680045.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMMECR1L",
"gene_hgnc_id": 28658,
"hgvs_c": "n.*393C>G",
"hgvs_p": null,
"transcript": "ENST00000680145.1",
"protein_id": "ENSP00000506553.1",
"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": 4681,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000680145.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMMECR1L",
"gene_hgnc_id": 28658,
"hgvs_c": "n.*232C>G",
"hgvs_p": null,
"transcript": "ENST00000680246.1",
"protein_id": "ENSP00000505484.1",
"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": 4736,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000680246.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMMECR1L",
"gene_hgnc_id": 28658,
"hgvs_c": "n.*308C>G",
"hgvs_p": null,
"transcript": "ENST00000680431.1",
"protein_id": "ENSP00000505675.1",
"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": 4785,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000680431.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMMECR1L",
"gene_hgnc_id": 28658,
"hgvs_c": "n.*284C>G",
"hgvs_p": null,
"transcript": "ENST00000681313.1",
"protein_id": "ENSP00000505989.1",
"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": 4803,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000681313.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": null,
"protein_coding": null,
"strand": true,
"consequences": [
"intragenic_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": null,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC107985803",
"gene_hgnc_id": null,
"hgvs_c": "n.127865136G>C",
"hgvs_p": null,
"transcript": null,
"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": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMMECR1L",
"gene_hgnc_id": 28658,
"hgvs_c": "n.*166C>G",
"hgvs_p": null,
"transcript": "ENST00000679574.1",
"protein_id": "ENSP00000506697.1",
"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": 4349,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000679574.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMMECR1L",
"gene_hgnc_id": 28658,
"hgvs_c": "n.*569C>G",
"hgvs_p": null,
"transcript": "ENST00000679797.1",
"protein_id": "ENSP00000505986.1",
"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": 4784,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000679797.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMMECR1L",
"gene_hgnc_id": 28658,
"hgvs_c": "n.*367C>G",
"hgvs_p": null,
"transcript": "ENST00000680045.1",
"protein_id": "ENSP00000506104.1",
"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,
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"mane_select": null,
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"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"verdict": "Uncertain_significance",
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{
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"verdict": "Uncertain_significance",
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"effects": [
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],
"inheritance_mode": "",
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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
}