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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: 7-44220094-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=44220094&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 44220094,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001220.5",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1969T>G",
"hgvs_p": "p.Cys657Gly",
"transcript": "NM_001220.5",
"protein_id": "NP_001211.3",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 666,
"cds_start": 1969,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000395749.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001220.5"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1969T>G",
"hgvs_p": "p.Cys657Gly",
"transcript": "ENST00000395749.7",
"protein_id": "ENSP00000379098.2",
"transcript_support_level": 1,
"aa_start": 657,
"aa_end": null,
"aa_length": 666,
"cds_start": 1969,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001220.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395749.7"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1597T>G",
"hgvs_p": "p.Cys533Gly",
"transcript": "ENST00000440254.6",
"protein_id": "ENSP00000397937.2",
"transcript_support_level": 1,
"aa_start": 533,
"aa_end": null,
"aa_length": 542,
"cds_start": 1597,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440254.6"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1525T>G",
"hgvs_p": "p.Cys509Gly",
"transcript": "ENST00000395747.6",
"protein_id": "ENSP00000379096.2",
"transcript_support_level": 1,
"aa_start": 509,
"aa_end": null,
"aa_length": 518,
"cds_start": 1525,
"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": "ENST00000395747.6"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1522T>G",
"hgvs_p": "p.Cys508Gly",
"transcript": "ENST00000258682.10",
"protein_id": "ENSP00000258682.6",
"transcript_support_level": 1,
"aa_start": 508,
"aa_end": null,
"aa_length": 517,
"cds_start": 1522,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258682.10"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1480T>G",
"hgvs_p": "p.Cys494Gly",
"transcript": "ENST00000358707.7",
"protein_id": "ENSP00000351542.3",
"transcript_support_level": 1,
"aa_start": 494,
"aa_end": null,
"aa_length": 503,
"cds_start": 1480,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358707.7"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1447T>G",
"hgvs_p": "p.Cys483Gly",
"transcript": "ENST00000347193.8",
"protein_id": "ENSP00000326544.6",
"transcript_support_level": 1,
"aa_start": 483,
"aa_end": null,
"aa_length": 492,
"cds_start": 1447,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347193.8"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1408T>G",
"hgvs_p": "p.Cys470Gly",
"transcript": "ENST00000353625.8",
"protein_id": "ENSP00000326427.5",
"transcript_support_level": 1,
"aa_start": 470,
"aa_end": null,
"aa_length": 479,
"cds_start": 1408,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000353625.8"
},
{
"aa_ref": "C",
"aa_alt": "G",
"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": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1318T>G",
"hgvs_p": "p.Cys440Gly",
"transcript": "ENST00000346990.8",
"protein_id": "ENSP00000326518.5",
"transcript_support_level": 1,
"aa_start": 440,
"aa_end": null,
"aa_length": 449,
"cds_start": 1318,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346990.8"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.2110T>G",
"hgvs_p": "p.Cys704Gly",
"transcript": "ENST00000943346.1",
"protein_id": "ENSP00000613405.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 713,
"cds_start": 2110,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943346.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.2098T>G",
"hgvs_p": "p.Cys700Gly",
"transcript": "ENST00000943324.1",
"protein_id": "ENSP00000613383.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 709,
"cds_start": 2098,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943324.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.2026T>G",
"hgvs_p": "p.Cys676Gly",
"transcript": "ENST00000943323.1",
"protein_id": "ENSP00000613382.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 685,
"cds_start": 2026,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943323.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.2023T>G",
"hgvs_p": "p.Cys675Gly",
"transcript": "ENST00000896822.1",
"protein_id": "ENSP00000566881.1",
"transcript_support_level": null,
"aa_start": 675,
"aa_end": null,
"aa_length": 684,
"cds_start": 2023,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896822.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.2008T>G",
"hgvs_p": "p.Cys670Gly",
"transcript": "ENST00000943353.1",
"protein_id": "ENSP00000613412.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 679,
"cds_start": 2008,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943353.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1993T>G",
"hgvs_p": "p.Cys665Gly",
"transcript": "ENST00000896844.1",
"protein_id": "ENSP00000566903.1",
"transcript_support_level": null,
"aa_start": 665,
"aa_end": null,
"aa_length": 674,
"cds_start": 1993,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896844.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1984T>G",
"hgvs_p": "p.Cys662Gly",
"transcript": "ENST00000943349.1",
"protein_id": "ENSP00000613408.1",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 671,
"cds_start": 1984,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943349.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1981T>G",
"hgvs_p": "p.Cys661Gly",
"transcript": "ENST00000896845.1",
"protein_id": "ENSP00000566904.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 670,
"cds_start": 1981,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896845.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1972T>G",
"hgvs_p": "p.Cys658Gly",
"transcript": "ENST00000943344.1",
"protein_id": "ENSP00000613403.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 667,
"cds_start": 1972,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943344.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1969T>G",
"hgvs_p": "p.Cys657Gly",
"transcript": "ENST00000943316.1",
"protein_id": "ENSP00000613375.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 666,
"cds_start": 1969,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943316.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1969T>G",
"hgvs_p": "p.Cys657Gly",
"transcript": "ENST00000943333.1",
"protein_id": "ENSP00000613392.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 666,
"cds_start": 1969,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943333.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1969T>G",
"hgvs_p": "p.Cys657Gly",
"transcript": "ENST00000943345.1",
"protein_id": "ENSP00000613404.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 666,
"cds_start": 1969,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943345.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1951T>G",
"hgvs_p": "p.Cys651Gly",
"transcript": "ENST00000896824.1",
"protein_id": "ENSP00000566883.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 660,
"cds_start": 1951,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
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}