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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: 3-46883624-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=46883624&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 46883624,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000316.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTH1R",
"gene_hgnc_id": 9608,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ala22Val",
"transcript": "NM_000316.3",
"protein_id": "NP_000307.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 593,
"cds_start": 65,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 293,
"cdna_end": null,
"cdna_length": 2153,
"mane_select": "ENST00000449590.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000316.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTH1R",
"gene_hgnc_id": 9608,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ala22Val",
"transcript": "ENST00000449590.6",
"protein_id": "ENSP00000402723.1",
"transcript_support_level": 1,
"aa_start": 22,
"aa_end": null,
"aa_length": 593,
"cds_start": 65,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 293,
"cdna_end": null,
"cdna_length": 2153,
"mane_select": "NM_000316.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449590.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTH1R",
"gene_hgnc_id": 9608,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ala22Val",
"transcript": "ENST00000313049.9",
"protein_id": "ENSP00000321999.4",
"transcript_support_level": 1,
"aa_start": 22,
"aa_end": null,
"aa_length": 593,
"cds_start": 65,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 268,
"cdna_end": null,
"cdna_length": 2123,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313049.9"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTH1R",
"gene_hgnc_id": 9608,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ala22Val",
"transcript": "ENST00000430002.6",
"protein_id": "ENSP00000413774.2",
"transcript_support_level": 1,
"aa_start": 22,
"aa_end": null,
"aa_length": 593,
"cds_start": 65,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 131,
"cdna_end": null,
"cdna_length": 1947,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430002.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTH1R",
"gene_hgnc_id": 9608,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ala22Val",
"transcript": "ENST00000877357.1",
"protein_id": "ENSP00000547416.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 606,
"cds_start": 65,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 179,
"cdna_end": null,
"cdna_length": 2074,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877357.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTH1R",
"gene_hgnc_id": 9608,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ala22Val",
"transcript": "ENST00000877359.1",
"protein_id": "ENSP00000547418.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 606,
"cds_start": 65,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 391,
"cdna_end": null,
"cdna_length": 2290,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877359.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTH1R",
"gene_hgnc_id": 9608,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ala22Val",
"transcript": "ENST00000958963.1",
"protein_id": "ENSP00000629022.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 606,
"cds_start": 65,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 342,
"cdna_end": null,
"cdna_length": 2241,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958963.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTH1R",
"gene_hgnc_id": 9608,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ala22Val",
"transcript": "NM_001184744.1",
"protein_id": "NP_001171673.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 593,
"cds_start": 65,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 131,
"cdna_end": null,
"cdna_length": 1991,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184744.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTH1R",
"gene_hgnc_id": 9608,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ala22Val",
"transcript": "ENST00000418619.5",
"protein_id": "ENSP00000411424.1",
"transcript_support_level": 5,
"aa_start": 22,
"aa_end": null,
"aa_length": 593,
"cds_start": 65,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 214,
"cdna_end": null,
"cdna_length": 2070,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418619.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTH1R",
"gene_hgnc_id": 9608,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ala22Val",
"transcript": "ENST00000877354.1",
"protein_id": "ENSP00000547413.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 593,
"cds_start": 65,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 984,
"cdna_end": null,
"cdna_length": 2841,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877354.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTH1R",
"gene_hgnc_id": 9608,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ala22Val",
"transcript": "ENST00000877355.1",
"protein_id": "ENSP00000547414.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 593,
"cds_start": 65,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 208,
"cdna_end": null,
"cdna_length": 2068,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877355.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTH1R",
"gene_hgnc_id": 9608,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ala22Val",
"transcript": "ENST00000877356.1",
"protein_id": "ENSP00000547415.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 593,
"cds_start": 65,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 783,
"cdna_end": null,
"cdna_length": 2643,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877356.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTH1R",
"gene_hgnc_id": 9608,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ala22Val",
"transcript": "ENST00000877358.1",
"protein_id": "ENSP00000547417.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 593,
"cds_start": 65,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 244,
"cdna_end": null,
"cdna_length": 2104,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877358.1"
},
{
"aa_ref": "A",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "PTH1R",
"gene_hgnc_id": 9608,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ala22Val",
"transcript": "ENST00000958964.1",
"protein_id": "ENSP00000629023.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
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"cds_start": 65,
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"cdna_start": 341,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958964.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTH1R",
"gene_hgnc_id": 9608,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ala22Val",
"transcript": "ENST00000958965.1",
"protein_id": "ENSP00000629024.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 592,
"cds_start": 65,
"cds_end": null,
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"cdna_start": 322,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958965.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "PTH1R",
"gene_hgnc_id": 9608,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ala22Val",
"transcript": "ENST00000958968.1",
"protein_id": "ENSP00000629027.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 592,
"cds_start": 65,
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"cds_length": 1779,
"cdna_start": 361,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958968.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTH1R",
"gene_hgnc_id": 9608,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ala22Val",
"transcript": "ENST00000936357.1",
"protein_id": "ENSP00000606416.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 590,
"cds_start": 65,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 244,
"cdna_end": null,
"cdna_length": 2085,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936357.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTH1R",
"gene_hgnc_id": 9608,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ala22Val",
"transcript": "ENST00000958970.1",
"protein_id": "ENSP00000629029.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 579,
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"cdna_start": 239,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958970.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTH1R",
"gene_hgnc_id": 9608,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ala22Val",
"transcript": "ENST00000877362.1",
"protein_id": "ENSP00000547421.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
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"cds_start": 65,
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"cdna_start": 354,
"cdna_end": null,
"cdna_length": 2132,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877362.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTH1R",
"gene_hgnc_id": 9608,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ala22Val",
"transcript": "ENST00000958967.1",
"protein_id": "ENSP00000629026.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 577,
"cds_start": 65,
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"cdna_start": 324,
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"cdna_length": 2102,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958967.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTH1R",
"gene_hgnc_id": 9608,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ala22Val",
"transcript": "ENST00000958966.1",
"protein_id": "ENSP00000629025.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 570,
"cds_start": 65,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 328,
"cdna_end": null,
"cdna_length": 2085,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958966.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTH1R",
"gene_hgnc_id": 9608,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ala22Val",
"transcript": "ENST00000958969.1",
"protein_id": "ENSP00000629028.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 570,
"cds_start": 65,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 368,
"cdna_end": null,
"cdna_length": 2125,
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"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}